Journal articles: 'AtPIP2'

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Kim, Hyun-Mi, Hyun-Sik Hwang, Suk-Chan Lee, Su-Hyun Jo, and Beom-Gi Kim. "The Optimization for Functional Expression of Arabidopsis Thaliana AtPIP2-1 in Xenopus laevis Oocyte." Journal of Applied Biological Chemistry 53, no. 4 (December 31, 2010): 189–94. http://dx.doi.org/10.3839/jabc.2010.034.

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Li, Zhou, Jieru Hou, Yan Zhang, Weihang Zeng, Bizhen Cheng, Muhammad Jawad Hassan, Youzhi Zhang, Qi Pu, and Yan Peng. "Spermine Regulates Water Balance Associated with Ca2+-Dependent Aquaporin (TrTIP2-1, TrTIP2-2 and TrPIP2-7) Expression in Plants under Water Stress." Plant and Cell Physiology 61, no. 9 (June 16, 2020): 1576–89. http://dx.doi.org/10.1093/pcp/pcaa080.

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Abstract Spermine (Spm) regulates water balance involved in water channel proteins, aquaporins (AQPs), in plants. An increase in endogenous Spm content via exogenous Spm application significantly improved cell membrane stability, photosynthesis, osmotic adjustment (OA) and water use efficiency (WUE) contributing to enhanced tolerance to water stress in white clover. Spm upregulated TrTIP2-1, TrTIP2-2 and TrPIP2-7 expressions and also increased the abundance of TIP2 and PIP2-7 proteins in white clover under water stress. Spm quickly activated intracellular Ca2+ signaling and Spm-induced TrTIP2-2 and TrPIP2-7 expressions could be blocked by Ca2+ channel blockers and the inhibitor of Ca2+-dependent protein kinase in leaves of white clover. TrSAMS in relation to Spm biosynthesis was first cloned from white clover and the TrSAMS was located in the nucleus. Transgenic Arabidopsis overexpressing the TrSAMS had significantly higher endogenous Spm content and improved cell membrane stability, photosynthesis, OA, WUE and transcript levels of AtSIP1-1, AtSIP1-2, AtTIP2-1, AtTIP2-2, AtPIP1-2, AtPIP2-1 and AtNIP2-1 than wild type in response to water stress. Current findings indicate that Spm regulates water balance via an enhancement in OA, WUE and water transport related to Ca2+-dependent AQP expression in plants under water stress.

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Zhang, Renshan, Xiaoqian Guan, Meijing Yang, Yee-Song Law, Chia Pao Voon, Junran Yan, Feng Sun, and Boon Leong Lim. "Overlapping Functions of the Paralogous Proteins AtPAP2 and AtPAP9 in Arabidopsis thaliana." International Journal of Molecular Sciences 22, no. 14 (July 6, 2021): 7243. http://dx.doi.org/10.3390/ijms22147243.

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Arabidopsis thaliana purple acid phosphatase 2 (AtPAP2), which is anchored to the outer membranes of chloroplasts and mitochondria, affects carbon metabolism by modulating the import of some preproteins into chloroplasts and mitochondria. AtPAP9 bears a 72% amino acid sequence identity with AtPAP2, and both proteins carry a hydrophobic motif at their C-termini. Here, we show that AtPAP9 is a tail-anchored protein targeted to the outer membrane of chloroplasts. Yeast two-hybrid and bimolecular fluorescence complementation experiments demonstrated that both AtPAP9 and AtPAP2 bind to a small subunit of rubisco 1B (AtSSU1B) and a number of chloroplast proteins. Chloroplast import assays using [35S]-labeled AtSSU1B showed that like AtPAP2, AtPAP9 also plays a role in AtSSU1B import into chloroplasts. Based on these data, we propose that AtPAP9 and AtPAP2 perform overlapping roles in modulating the import of specific proteins into chloroplasts. Most plant genomes contain only one PAP-like sequence encoding a protein with a hydrophobic motif at the C-terminus. The presence of both AtPAP2 and AtPAP9 in the Arabidopsis genome may have arisen from genome duplication in Brassicaceae. Unlike AtPAP2 overexpression lines, the AtPAP9 overexpression lines did not exhibit early-bolting or high-seed-yield phenotypes. Their differential growth phenotypes could be due to the inability of AtPAP9 to be targeted to mitochondria, as the overexpression of AtPAP2 on mitochondria enhances the capacity of mitochondria to consume reducing equivalents.

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Ferrari, Simone, Roberta Galletti, Donatella Vairo, Felice Cervone, and Giulia De Lorenzo. "Antisense Expression of the Arabidopsis thaliana AtPGIP1 Gene Reduces Polygalacturonase-Inhibiting Protein Accumulation and Enhances Susceptibility to Botrytis cinerea." Molecular Plant-Microbe Interactions® 19, no. 8 (August 2006): 931–36. http://dx.doi.org/10.1094/mpmi-19-0931.

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Polygalacturonases (PGs) hydrolyze the homogalacturonan of plant cell-wall pectin and are important virulence factors of several phytopathogenic fungi. In response to abiotic and biotic stress, plants accumulate PG-inhibiting proteins (PGIPs) that reduce the activity of fungal PGs. In Arabidopsis thaliana, PGIPs with comparable activity against BcPG1, an important pathogenicity factor of the necrotrophic fungus Botrytis cinerea, are encoded by two genes, AtPGIP1 and AtPGIP2. Both genes are induced by fungal infection through different signaling pathways. We show here that transgenic Arabidopsis plants expressing an antisense AtPGIP1 gene have reduced AtPGIP1 inhibitory activity and are more susceptible to B. cinerea infection. These results indicate that PGIP contributes to basal resistance to this pathogen and strongly support the vision that this protein plays a role in Arabidopsis innate immunity.

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Ortiz-Morea, Fausto Andres, Daniel V. Savatin, Wim Dejonghe, Rahul Kumar, Yu Luo, Maciej Adamowski, Jos Van den Begin, et al. "Danger-associated peptide signaling in Arabidopsis requires clathrin." Proceedings of the National Academy of Sciences 113, no. 39 (September 20, 2016): 11028–33. http://dx.doi.org/10.1073/pnas.1605588113.

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The Arabidopsis thaliana endogenous elicitor peptides (AtPeps) are released into the apoplast after cellular damage caused by pathogens or wounding to induce innate immunity by direct binding to the membrane-localized leucine-rich repeat receptor kinases, PEP RECEPTOR1 (PEPR1) and PEPR2. Although the PEPR-mediated signaling components and responses have been studied extensively, the contributions of the subcellular localization and dynamics of the active PEPRs remain largely unknown. We used live-cell imaging of the fluorescently labeled and bioactive pep1 to visualize the intracellular behavior of the PEPRs in the Arabidopsis root meristem. We found that AtPep1 decorated the plasma membrane (PM) in a receptor-dependent manner and cointernalized with PEPRs. Trafficking of the AtPep1-PEPR1 complexes to the vacuole required neither the trans-Golgi network/early endosome (TGN/EE)-localized vacuolar H+-ATPase activity nor the function of the brefeldin A-sensitive ADP-ribosylation factor-guanine exchange factors (ARF-GEFs). In addition, AtPep1 and different TGN/EE markers colocalized only rarely, implying that the intracellular route of this receptor–ligand pair is largely independent of the TGN/EE. Inducible overexpression of the Arabidopsis clathrin coat disassembly factor, Auxilin2, which inhibits clathrin-mediated endocytosis (CME), impaired the AtPep1-PEPR1 internalization and compromised AtPep1-mediated responses. Our results show that clathrin function at the PM is required to induce plant defense responses, likely through CME of cell surface-located signaling components.

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Robinson, Whitney D., Joonho Park, Hue T. Tran, Hernan A. Del Vecchio, Sheng Ying, Jacqui L. Zins, Ketan Patel, Thomas D. McKnight, and William C. Plaxton. "The secreted purple acid phosphatase isozymes AtPAP12 and AtPAP26 play a pivotal role in extracellular phosphate-scavenging by Arabidopsis thaliana." Journal of Experimental Botany 63, no. 18 (November 2012): 6531–42. http://dx.doi.org/10.1093/jxb/ers309.

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TRAN, HUE T., WEIQIANG QIAN, BRENDEN A. HURLEY, YI-MIN SHE, DAOWEN WANG, and WILLIAM C. PLAXTON. "Biochemical and molecular characterization of AtPAP12 and AtPAP26: the predominant purple acid phosphatase isozymes secreted by phosphate-starved Arabidopsis thaliana." Plant, Cell & Environment 33, no. 11 (June 2, 2010): 1789–803. http://dx.doi.org/10.1111/j.1365-3040.2010.02184.x.

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Xu, Zhou, Renshan Zhang, Meijing Yang, Yee-Song Law, Feng Sun, Ngai Lung Hon, Sai Ming Ngai, and Boon Leong Lim. "A Balance between the Activities of Chloroplasts and Mitochondria Is Crucial for Optimal Plant Growth." Antioxidants 10, no. 6 (June 9, 2021): 935. http://dx.doi.org/10.3390/antiox10060935.

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Energy metabolism in plant cells requires a balance between the activities of chloroplasts and mitochondria, as they are the producers and consumers of carbohydrates and reducing equivalents, respectively. Recently, we showed that the overexpression of Arabidopsis thaliana purple acid phosphatase 2 (AtPAP2), a phosphatase dually anchored on the outer membranes of chloroplasts and mitochondria, can boost the plant growth and seed yield of Arabidopsis thaliana by coordinating the activities of both organelles. However, when AtPAP2 is solely overexpressed in chloroplasts, the growth-promoting effects are less optimal, indicating that active mitochondria are required for dissipating excess reducing equivalents from chloroplasts to maintain the optimal growth of plants. It is even more detrimental to plant productivity when AtPAP2 is solely overexpressed in mitochondria. Although these lines contain high level of adenosine triphosphate (ATP), they exhibit low leaf sucrose, low seed yield, and early senescence. These transgenic lines can be useful tools for studying how hyperactive chloroplasts or mitochondria affect the physiology of their counterparts and how they modify cellular metabolism and plant physiology.

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Shah, Dhvanit I., Naoko Takahasi-Makise, Iman Schultz, Eric L. Pierce, Liangtao Li, Guillaume Vogin, Benjamin S. Brigham, et al. "atpif1 regulates Mitochondrial Heme Synthesis In Developing Erythroid Cells." Blood 116, no. 21 (November 19, 2010): 163. http://dx.doi.org/10.1182/blood.v116.21.163.163.

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Abstract Abstract 163 Iron plays a key role as a cofactor in many fundamental metabolic processes, which require heme synthesis and Fe/S cluster assembly in the mitochondria. Defects in the transport of iron into the mitochondria would lead to anemias due to a deficiency in heme and hemoglobin synthesis. Here we describe a zebrafish genetic mutant, pinotage (pnttq209), which exhibits a profound hypochromic, microcytic anemia. Erythrocytes from pnt mutants have a defect in hemoglobinization and decreased red cell indices (mean corpuscular volume and hemoglobin content, hematocrit, hemoglobin concentration). Through positional cloning, we showed that the mitochondrial ATPase Inhibitory Factor 1 (atpif1), which regulates the inner mitochondrial membrane potential, is the gene disrupted in pnt. The identity of the pnt gene was verified by: (a) decreased atpif1 steady-state mRNA in pnt mutants, (b) phenocopying the anemia with anti-sense atpif1 morpholinos, (c) functional complementation of the anemia with atpif1 cRNA, and (d) a genetic polymorphism in the 3'UTR co-segregating with the mutant phenotype that destabilizes the atpif1 mRNA. Consistent with the conserved function of atpif1 in higher vertebrates, the silencing of the murine ortholog of atpif1 in Friend mouse erythroleukemia (MEL) cells showed a defect in hemoglobinization by o-dianisidine staining and reduction of 59Fe incorporation into heme in 59Fe-metabolically labeled cells. Moreover, Atpif1 knockdown destabilizes their mitochondrial membrane potential and volume. Therefore, the identification of atpif1 in pnt functionally demonstrates the role of atpif1 in regulating the proton motive gradient across the inner mitochondrial membrane for mitochondrial iron incorporation in heme biosynthesis. These results uncover a novel hematopoiesis-related function of atpif1, which will directly contribute to our understanding and potential treatment of human congenital and acquired anemias. Disclosures: No relevant conflicts of interest to declare.

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Shah, Dhvanit I., Naoko Takahashi-Makise, Jeffrey D. Cooney, Liangtao Li, Iman Schultz, Eric L. Pierce, Anupama Narla, et al. "Mitochondrial Atpif1 Regulates Heme Synthesis in Developing Erythroblasts." Blood 118, no. 21 (November 18, 2011): 343. http://dx.doi.org/10.1182/blood.v118.21.343.343.

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Abstract Abstract 343 Iron and protoporphyrin IX (PPIX) are key substrates used by ferrochelatase (Fech) to produce heme, which subsequently binds to globin to generate hemoglobin in red blood cells. Defects in the transport of iron, synthesis of PPIX, or catalytic activity of Fech impair heme synthesis, and thus cause human congenital anemias. However, the precise mechanisms regulating transporters and enzymes facilitating heme synthesis and their inter-dependent actions remain largely unknown. The zebrafish mutant pinotage (pnttq209) exhibits profound hypochromic, microcytic anemia. Erythrocytes from viable adult pnt fish have reduced hemoglobin content and cell volume. Positional cloning, morpholino-induced loss-of-function, cRNA over-expression, quantitative RT-PCR, and mutational analysis show that mitochondrial ATPase inhibitory factor1 (Atpif1) is the gene disrupted in pnt. Previous studies have demonstrated the role of Atpif1 in the regulation of mitochondrial proton motive force, pH, and ATP synthesis. Here, we report direct evidence that Atpif1 regulates mitochondrial heme synthesis. Knock down of the human and murine orthologs of Atpif1 using shRNAs in mammalian erythroid tissues, human CD34+, mouse Friend erythroleukemia (MEL) and primary fetal liver cells, impairs hemoglobinization. Atpif1 protein levels are reduced in stable MEL cells silenced for Atpif1; however, the protein levels of other mitochondrial structural proteins, β-subunit of ATP synthase (AtpB), voltage-dependent anionic-selective channel protein 1 (Vdac1), complex IV (CoxIV), and heat shock protein 60 (Hsp60), are normal, indicating an intact mitochondrial structure in Atpif1 silenced cells. Moreover, Atpif1 silenced cells have an increased mitochondrial membrane potential, an elevation in mitochondrial pH, and depleted ATP levels. Differentiating MEL cells silenced for Atpif1 display reduced incorporation of 59Fe into heme, although their mitochondria have sufficient amounts of Fech substrates, iron and PPIX. This is due to diminished in vivo Fech activity, despite having normal levels of Fech protein in Atpif1 silenced cells. We further establish that the Fech activity is reduced at pH 8.5, corresponding to the more alkaline mitochondrial pH in Atpif1-silenced cells. The over-expression of either yeast Fech or zebrafish Fech in pnt embryos shows that only yeast Fech rescues the anemia in pnt. This demonstrates that the catalytic activity of [Fe-S] bound zebrafish Fech, and not yeast Fech, which lacks the [Fe-S] cluster, is vulnerable to the elevation in mitochondrial pH due to the loss of Atpif1. Therefore, the loss of Atpif1 reduces the catalytic ability of vertebrate Fech to incorporate iron into PPIX to make heme, resulting in hypochromic anemia. The newly uncovered role of Atpif1 to regulate Fech provides a new insight on the mitochondrial regulation of heme synthesis and a potential cause of sideroblastic anemias. Mechanistic model of Atpif1 function in heme synthesis. The mitochondrial Atpif1 normally preserves mitochondrial pH. Loss of Atpif1 alkalinizes mitochondrial pH, the [Fe-S] cluster binding makes Fech sensitive to mitochondrial pH changes, and consequently reduces its catalytic efficiency for the production of heme. Disclosures: No relevant conflicts of interest to declare.

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Wang, Liangsheng, Shan Lu, Ye Zhang, Zheng Li, Xiaoqiu Du, and Dong Liu. "Comparative genetic analysis of Arabidopsis purple acid phosphatases AtPAP10, AtPAP12, and AtPAP26 provides new insights into their roles in plant adaptation to phosphate deprivation." Journal of Integrative Plant Biology 56, no. 3 (March 2014): 299–314. http://dx.doi.org/10.1111/jipb.12184.

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Figueiredo, Marta, Arezoo Daryadel, Gabin Sihn, Dominik N. Müller, Elena Popova, Anthony Rouselle, Genevieve Nguyen, Michael Bader, and Carsten A. Wagner. "The (pro)renin receptor (ATP6ap2) facilitates receptor-mediated endocytosis and lysosomal function in the renal proximal tubule." Pflügers Archiv - European Journal of Physiology 473, no. 8 (July 6, 2021): 1229–46. http://dx.doi.org/10.1007/s00424-021-02598-z.

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AbstractThe ATP6ap2 (Pro)renin receptor protein associates with H+-ATPases which regulate organellar, cellular, and systemic acid–base homeostasis. In the kidney, ATP6ap2 colocalizes with H+-ATPases in various cell types including the cells of the proximal tubule. There, H+-ATPases are involved in receptor-mediated endocytosis of low molecular weight proteins via the megalin/cubilin receptors. To study ATP6ap2 function in the proximal tubule, we used an inducible shRNA Atp6ap2 knockdown rat model (Kd) and an inducible kidney-specific Atp6ap2 knockout mouse model. Both animal lines showed higher proteinuria with elevated albumin, vitamin D binding protein, and procathepsin B in urine. Endocytosis of an injected fluid-phase marker (FITC- dextran, 10 kDa) was normal whereas processing of recombinant transferrin, a marker for receptor-mediated endocytosis, to lysosomes was delayed. While megalin and cubilin expression was unchanged, abundance of several subunits of the H+-ATPase involved in receptor-mediated endocytosis was reduced. Lysosomal integrity and H+-ATPase function are associated with mTOR signaling. In ATP6ap2, KO mice mTOR and phospho-mTOR appeared normal but increased abundance of the LC3-B subunit of the autophagosome was observed suggesting a more generalized impairment of lysosomal function in the absence of ATP6ap2. Hence, our data suggests a role for ATP6ap2 for proximal tubule function in the kidney with a defect in receptor-mediated endocytosis in mice and rats.

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Guida, Maria Clara, Tobias Hermle, Laurie A. Graham, Virginie Hauser, Margret Ryan, Tom H. Stevens, and Matias Simons. "ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum." Molecular Biology of the Cell 29, no. 18 (September 2018): 2156–64. http://dx.doi.org/10.1091/mbc.e18-04-0234.

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ATP6AP2 (also known as the [pro]renin receptor) is a type I transmembrane protein that can be cleaved into two fragments in the Golgi apparatus. While in Drosophila ATP6AP2 functions in the planar cell polarity (PCP) pathway, recent human genetic studies have suggested that ATP6AP2 could participate in the assembly of the V-ATPase in the endoplasmic reticulum (ER). Using a yeast model, we show here that the V-ATPase assembly factor Voa1 can functionally be replaced by Drosophila ATP6AP2. This rescue is even more efficient when coexpressing its binding partner ATP6AP1, indicating that these two proteins together fulfill Voa1 functions in higher organisms. Structure–function analyses in both yeast and Drosophila show that proteolytic cleavage is dispensable, while C-terminus-dependent ER retrieval is required for ATP6AP2 function. Accordingly, we demonstrate that both overexpression and lack of ATP6AP2 causes ER stress in Drosophila wing cells and that the induction of ER stress is sufficient to cause PCP phenotypes. In summary, our results suggest that full-length ATP6AP2 contributes to the assembly of the V-ATPase proton pore and that impairment of this function affects ER homeostasis and PCP signaling.

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Nakajima, Kazuo, Mizuho Ishiwata, Adam Z. Weitemier, Hirotaka Shoji, Hiromu Monai, Hiroyuki Miyamoto, Kazuhiro Yamakawa, Tsuyoshi Miyakawa, Thomas J. McHugh, and Tadafumi Kato. "Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier’s disease, causes behavioral abnormalities and a hyper-dopaminergic state." Human Molecular Genetics 30, no. 18 (June 8, 2021): 1762–72. http://dx.doi.org/10.1093/hmg/ddab137.

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Abstract A report of a family of Darier’s disease with mood disorders drew attention when the causative gene was identified as ATP2A2 (or SERCA2), which encodes a Ca2+ pump on the endoplasmic reticulum (ER) membrane and is important for intracellular Ca2+ signaling. Recently, it was found that loss-of-function mutations of ATP2A2 confer a risk of neuropsychiatric disorders including depression, bipolar disorder and schizophrenia. In addition, a genome-wide association study found an association between ATP2A2 and schizophrenia. However, the mechanism of how ATP2A2 contributes to vulnerability to these mental disorders is unknown. Here, we analyzed Atp2a2 heterozygous brain-specific conditional knockout (hetero cKO) mice. The ER membranes prepared from the hetero cKO mouse brain showed decreased Ca2+ uptake activity. In Atp2a2 heterozygous neurons, decays of cytosolic Ca2+ level were slower than control neurons after depolarization. The hetero cKO mice showed altered behavioral responses to novel environments and impairments in fear memory, suggestive of enhanced dopamine signaling. In vivo dialysis demonstrated that extracellular dopamine levels in the NAc were indeed higher in the hetero cKO mice. These results altogether indicate that the haploinsufficiency of Atp2a2 in the brain causes prolonged cytosolic Ca2+ transients, which possibly results in enhanced dopamine signaling, a common feature of mood disorders and schizophrenia. These findings elucidate how ATP2A2 mutations causing a dermatological disease may exert their pleiotropic effects on the brain and confer a risk for mental disorders.

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Son, Hyosuk, Young Jun Jung, Seong-Cheol Park, Il Ryong Kim, Joung Hun Park, Mi-Kyeong Jang, and Jung Ro Lee. "Functional Characterization of an Arabidopsis Profilin Protein as a Molecular Chaperone under Heat Shock Stress." Molecules 27, no. 18 (September 6, 2022): 5771. http://dx.doi.org/10.3390/molecules27185771.

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Profilins (PFNs) are actin monomer-binding proteins that function as antimicrobial agents in plant phloem sap. Although the roles of Arabidopsis thaliana profilin protein isoforms (AtPFNs) in regulating actin polymerization have already been described, their biochemical and molecular functions remain to be elucidated. Interestingly, a previous study indicated that AtPFN2 with high molecular weight (HMW) complexes showed lower antifungal activity than AtPFN1 with low molecular weight (LMW). These were bacterially expressed and purified to characterize the unknown functions of AtPFNs with different structures. In this study, we found that AtPFN1 and AtPFN2 proteins have LMW and HMW structures, respectively, but only AtPFN2 has a potential function as a molecular chaperone, which has never been reported elsewhere. AtPFN2 has better protein stability than AtPFN1 due to its higher molecular weight under heat shock conditions. The function of AtPFN2 as a holdase chaperone predominated in the HMW complexes, whereas the chaperone function of AtPFN1 was not observed in the LMW forms. These results suggest that AtPFN2 plays a critical role in plant tolerance by increasing hydrophobicity due to external heat stress.

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Nakaminami, Kentaro, Masanori Okamoto, Mieko Higuchi-Takeuchi, Takeshi Yoshizumi, Yube Yamaguchi, Yoichiro Fukao, Minami Shimizu, et al. "AtPep3 is a hormone-like peptide that plays a role in the salinity stress tolerance of plants." Proceedings of the National Academy of Sciences 115, no. 22 (May 14, 2018): 5810–15. http://dx.doi.org/10.1073/pnas.1719491115.

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Peptides encoded by small coding genes play an important role in plant development, acting in a similar manner as phytohormones. Few hormone-like peptides, however, have been shown to play a role in abiotic stress tolerance. In the current study, 17 Arabidopsis genes coding for small peptides were found to be up-regulated in response to salinity stress. To identify peptides leading salinity stress tolerance, we generated transgenic Arabidopsis plants overexpressing these small coding genes and assessed survivability and root growth under salinity stress conditions. Results indicated that 4 of the 17 overexpressed genes increased salinity stress tolerance. Further studies focused on AtPROPEP3, which was the most highly up-regulated gene under salinity stress. Treatment of plants with synthetic peptides encoded by AtPROPEP3 revealed that a C-terminal peptide fragment (AtPep3) inhibited the salt-induced bleaching of chlorophyll in seedlings. Conversely, knockdown AtPROPEP3 transgenic plants exhibited a hypersensitive phenotype under salinity stress, which was complemented by the AtPep3 peptide. This functional AtPep3 peptide region overlaps with an AtPep3 elicitor peptide that is related to the immune response of plants. Functional analyses with a receptor mutant of AtPep3 revealed that AtPep3 was recognized by the PEPR1 receptor and that it functions to increase salinity stress tolerance in plants. Collectively, these data indicate that AtPep3 plays a significant role in both salinity stress tolerance and immune response in Arabidopsis.

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Pringle, K. G., A. L. Conquest, C. M. Mitchell, T. Zakar, and E. R. Lumbers. "118. THE PRORENIN RECEPTOR/PLZF PATHWAY IN HUMAN AMNION." Reproduction, Fertility and Development 22, no. 9 (2010): 36. http://dx.doi.org/10.1071/srb10abs118.

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Prorenin, despite being inactive, is the major form of renin found in amniotic fluid and reproductive tissues. Prorenin becomes active if it binds to the novel prorenin receptor (ATP6AP2). The prorenin-ATP6AP2 complex has been found to stimulate translocation of Promyelocytic Zinc Finger (PLZF) protein to the nucleus where it increases expression of the p85α subunit of PI3 kinase (PI3K-p85α) and represses the expression of ATP6AP21. Progesterone and glucocorticoids have also been shown to stimulate PLZF2, 3. We aimed to find out if PLZF and the prorenin-ATP6AP2 pathway interact in human reproductive tissues. Human amnion was cultured for 24 h in media containing vehicle, dexamethasone, amniotic fluid or recombinant human (rh) prorenin. Total RNA was extracted using TRIZol® and converted to cDNA for quantitative real-time PCR using SuperScript III and random hexamers. mRNA abundances for PLZF, PI3K-p85α and ATP6AP2 were calculated relative to Alien RNA using the ΔΔCT method. Our preliminary data show that exposure of amnion explants to dexamethasone upregulates PLZF and PI3K-p85α mRNA but has no effect on ATP6AP2. Culture of amnion explants with amniotic fluid also increases PLZF but does not change PI3K or ATP6AP2. In contrast, culture of amnion explants with (rh) prorenin increases PI3K mRNA but not PLZF or ATP6AP2. As expected, dexamethasone affects PLZF expression, however in amnion there is no interaction with the ATP6AP2 pathway. In addition, we believe we have identified a novel prorenin/ATP6AP2 signalling pathway which acts on PI3K-p85α independent of PLZF. In contrast to these data, amniotic fluid increases PLZF but not PI3K-p85α mRNA levels suggesting that amniotic fluid contains other factors that oppose prorenin and glucocorticoid effects on PI3K-p85α. (1) Schefe, J.H., et al. Circ Res, 2006. 99(12): 1355–1366.(2) Fahnenstich, J., et al. Mol. Hum. Reprod., 2003. 9(10): 611–623.(3) Conquest, A. et al. Fetal and Neonatal Physiology Workshop, 2010. Wellington, New Zealand.

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Chadha, Ravinder, Renuka Pathak, and Ishu Kataria. "Metabolic Syndrome among Young Business Process Outsourcing Industry Employees." Indian Journal of Nutrition and Dietetics 53, no. 3 (June 10, 2016): 286. http://dx.doi.org/10.21048/ijnd.2016.53.3.5299.

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Metabolic Syndrome (MetS) is a complicated disorder that increases a person's risk to cardiovascular disease and diabetes mellitus and therefore, needs to be diagnosed early. Young adults in business process outsourcing industry (BPO) may be more susceptible to the syndrome owing to the sedentary nature of their work and other lifestyle factors. This study aimed at assessing the prevalence of MetS among young business process outsourcing industry employees (21-30 years). In this cross-sectional study conducted in the National Capital Region of India, MetS was diagnosed using the Adult Treatment Pattern III (NCEP ATPIII, 2001) and International Diabetes Federation (IDF, 2005) (ethnicity specific) criteria among 415 business process outsourcing employees (274 males; 141 females) working at the calling level. Prevalence of MetS was 11.8% according to ATPIII criteria (14.6% males; 6.4% females) and 18.3% according to IDF criteria (22.3% males; 10.6% females) and was significantly higher in males compared to females (ATPIII p = 0.014; 95% CI 0.02, 0.14; IDF:p = 0.004; 95% CI 0.05, 0.19). As per the ATPIII criteria, highest proportion of the employees had low levels of HDL cholesterol (48.2%) whereas as per the IDF criteria, they had high waist circumference (58.6%). MetS was significantly associated with being single (ATPIII p=0.003; IDF p=0.012), having monthly income more than 20,000 INR (ATPIII p=0.009), having waist to height ratio ≥ 0.5 (ATPIII p=0.002; IDF p=0.000) and BMI ≥ 23kg/m2 (ATPIII p=0.000; IDF p=0.000). With nearly 1/5th of the BPO employees having MetS at a young age (21-30 years), there is an urgent need to initiate appropriate workplace screening and intervention strategies to prevent and reverse the syndrome among them.

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Geisler, Markus, H. Üner Kolukisaoglu, Rodolphe Bouchard, Karla Billion, Joachim Berger, Beate Saal, Nathalie Frangne, et al. "TWISTED DWARF1, a Unique Plasma Membrane-anchored Immunophilin-like Protein, Interacts with Arabidopsis Multidrug Resistance-like Transporters AtPGP1 and AtPGP19." Molecular Biology of the Cell 14, no. 10 (October 2003): 4238–49. http://dx.doi.org/10.1091/mbc.e02-10-0698.

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Null-mutations of the Arabidopsis FKBP-like immunophilin TWISTED DWARF1 (TWD1) gene cause a pleiotropic phenotype characterized by reduction of cell elongation and disorientated growth of all plant organs. Heterologously expressed TWD1 does not exhibit cis-trans-peptidylprolyl isomerase (PPIase) activity and does not complement yeast FKBP12 mutants, suggesting that TWD1 acts indirectly via protein-protein interaction. Yeast two-hybrid protein interaction screens with TWD1 identified cDNA sequences that encode the C-terminal domain of Arabidopsis multidrugresistance-like ABC transporter AtPGP1. This interaction was verified in vitro. Mapping of protein interaction domains shows that AtPGP1 surprisingly binds to the N-terminus of TWD1 harboring the cis-trans peptidyl-prolyl isomerase-like domain and not to the tetratrico-peptide repeat domain, which has been shown to mediate protein-protein interaction. Unlike all other FKBPs, TWD1 is shown to be an integral membrane protein that colocalizes with its interacting partner AtPGP1 on the plasma membrane. TWD1 also interacts with AtPGP19 (AtMDR1), the closest homologue of AtPGP1. The single gene mutation twd1-1 and double atpgp1-1/atpgp19-1 (atmdr1-1) mutants exhibit similar phenotypes including epinastic growth, reduced inflorescence size, and reduced polar auxin transport, suggesting that a functional TWD1-AtPGP1/AtPGP19 complex is required for proper plant development.

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Chalat, Madhavan, Kody Moleschi, and Robert S. Molday. "C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity." Molecular Biology of the Cell 28, no. 3 (February 2017): 452–62. http://dx.doi.org/10.1091/mbc.e16-06-0453.

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ATP8A2 is a P4-ATPase that flips phosphatidylserine and phosphatidylethanolamine across cell membranes. This generates membrane phospholipid asymmetry, a property important in many cellular processes, including vesicle trafficking. ATP8A2 deficiency causes severe neurodegenerative diseases. We investigated the role of the C-terminus of ATP8A2 in its expression, subcellular localization, interaction with its subunit CDC50A, and function as a phosphatidylserine flippase. C-terminal deletion mutants exhibited a reduced tendency to solubilize in mild detergent and exit the endoplasmic reticulum. The solubilized protein, however, assembled with CDC50A and displayed phosphatidylserine flippase activity. Deletion of the C-terminal 33 residues resulted in reduced phosphatidylserine-dependent ATPase activity, phosphatidylserine flippase activity, and neurite extension in PC12 cells. These reduced activities were reversed with 60- and 80-residue C-terminal deletions. Unlike the yeast P4-ATPase Drs2, ATP8A2 is not regulated by phosphoinositides but undergoes phosphorylation on the serine residue within a CaMKII target motif. We propose a model in which the C-terminus of ATP8A2 consists of an autoinhibitor domain upstream of the C-terminal 33 residues and an anti-autoinhibitor domain at the extreme C-terminus. The latter blocks the inhibitory activity of the autoinhibitor domain. We conclude that the C-terminus plays an important role in the efficient folding and regulation of ATP8A2.

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Song, Shen, Jinlong Huo, Feng Yuan, Yina Ou-Yang, DaLin Li, YueYun Yuan, Tao Chen, LianJun Li, and YongWang Miao. "Molecular cloning, sequence characterization, and gene expression profile of a novel water buffalo (Bubalus bubalis) gene: Na+, K+-ATPase β2-subunit (ATP1B2)." Archives Animal Breeding 57, no. 1 (June 30, 2014): 1–12. http://dx.doi.org/10.7482/0003-9438-57-015.

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Abstract. The Na+, K+-ATPase is a transmembrane carrier protein which plays an important role in Na-K transport and energy metabolism. The aim of this study was to obtain the full-length coding sequence (CDS) of water buffalo Na+, K+-ATPase β2-subunit (ATP1B2) using RT-PCR and to investigate the characterizations of its sequence and tissue expression patterns. Sequence analysis revealed that the CDS of water buffalo ATP1B2 encodes an enzyme of 290 amino acid residues with a deduced molecular weight of 33.39 KDa and a PI of 8.37. Water buffalo ATP1B2 was presumed to have a signal peptide, a strong hydrophobic region and to exert its function in the plasma membrane with high reliability. In addition, water buffalo ATP1B2 has a conserved Na+, K+-ATPase β domain which belongs to Na+, K+-ATPase superfamily. The sequence of water buffalo ATP1B2 gene shares 97.6, 97.4, 92.2, 93.2, 89.9, 93.2, 89.5 and 62.9 % identify with its homologous sequence of cattle, sheep, dog, human, mouse, baboon, rat and African clawed frog, respectively. Phylogenetic tree analysis based on the CDS of ATP1B2 gene showed that water buffalo has a closer genetic relationship with cattle than with other species. The ATP1B2 gene was widely expressed in the tissues examined, being high in the pituitary gland and brain, moderate in the muscle, spleen, liver, mammary gland, kidney and rumen, weak in the heart, small intestines and skin, and not expressed in the lung and adipose tissue. This study will establish a foundation for further insights into this novel water buffalo gene.

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Vetro, Annalisa, Hang N. Nielsen, Rikke Holm, Robert F. Hevner, Elena Parrini, Zoe Powis, Rikke S. Møller, et al. "ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria." Brain 144, no. 5 (May 1, 2021): 1435–50. http://dx.doi.org/10.1093/brain/awab052.

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Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. We investigated the genetic causes of developmental and epileptic encephalopathies variably associated with malformations of cortical development in a large cohort and identified 22 patients with de novo or inherited heterozygous ATP1A2/A3 mutations. We characterized clinical, neuroimaging and neuropathological findings, performed in silico and in vitro assays of the mutations’ effects on the NKA-pump function, and studied genotype-phenotype correlations. Twenty-two patients harboured 19 distinct heterozygous mutations of ATP1A2 (six patients, five mutations) and ATP1A3 (16 patients, 14 mutations, including a mosaic individual). Polymicrogyria occurred in 10 (45%) patients, showing a mainly bilateral perisylvian pattern. Most patients manifested early, often neonatal, onset seizures with a multifocal or migrating pattern. A distinctive, ‘profound’ phenotype, featuring polymicrogyria or progressive brain atrophy and epilepsy, resulted in early lethality in seven patients (32%). In silico evaluation predicted all mutations to be detrimental. We tested 14 mutations in transfected COS-1 cells and demonstrated impaired NKA-pump activity, consistent with severe loss of function. Genotype-phenotype analysis suggested a link between the most severe phenotypes and lack of COS-1 cell survival, and also revealed a wide continuum of severity distributed across mutations that variably impair NKA-pump activity. We performed neuropathological analysis of the whole brain in two individuals with polymicrogyria respectively related to a heterozygous ATP1A3 mutation and a homozygous ATP1A2 mutation and found close similarities with findings suggesting a mainly neural pathogenesis, compounded by vascular and leptomeningeal abnormalities. Combining our report with other studies, we estimate that ∼5% of mutations in ATP1A2 and 12% in ATP1A3 can be associated with the severe and novel phenotypes that we describe here. Notably, a few of these mutations were associated with more than one phenotype. These findings assign novel, ‘profound’ and early lethal phenotypes of developmental and epileptic encephalopathies and polymicrogyria to the phenotypic spectrum associated with heterozygous ATP1A2/A3 mutations and indicate that severely impaired NKA pump function can disrupt brain morphogenesis.

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Sun, Feng, Chao Liang, James Whelan, Jun Yang, Peng Zhang, and Boon Lim. "Global transcriptome analysis of AtPAP2 - overexpressing Arabidopsisthaliana with elevated ATP." BMC Genomics 14, no. 1 (2013): 752. http://dx.doi.org/10.1186/1471-2164-14-752.

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Müller, Andreas, Changhui Guan, Leo Gälweiler, Petra Tänzler, Peter Huijser, Alan Marchant, Geraint Parry, Malcolm Bennett, Ellen Wisman, and Klaus Palme. "AtPIN2 defines a locus of Arabidopsis for root gravitropism control." EMBO Journal 17, no. 23 (December 1, 1998): 6903–11. http://dx.doi.org/10.1093/emboj/17.23.6903.

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Jin, Xiaosheng, Peipei Cai, Zhengchao Shi, Fangpeng Ye, Tingting Ji, and Rongzhou Li. "MiR-148a-3p suppresses the progression of gastric cancer cells through targeting ATP6AP2." Tropical Journal of Pharmaceutical Research 19, no. 9 (November 23, 2020): 1821–26. http://dx.doi.org/10.4314/tjpr.v19i9.4.

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Purpose: Gastric cancer (GC) is one of the most frequent tumors with high mortality rate, worldwide. A proper understanding of the mechanism underlying its progression is required for its diagnosis and development of novel treatment option. MicroRNAs are associated with the development and advancement of different types of cancer, including GC. The current research was aimed at investigating the molecular and biological function of miR-148a-3p in GC development.Methods: A human normal gastric epithelial cell line, GES-1 (control) as well as four GC cell lines (NUGC-4, SNU-520, STKM-2 and MKN-74) were employed for the study. MiR-148a-3p and ATP6AP2 expression levels in GC cell lines were examined by RT-qPCR technique. Transfection procedure was used to upregulate miR-148a-3p expression in the MKN-45 cell line. MTT assay was utilized to evaluate cell viability in GC cell lines. The molecular interaction between miR-148a-3p and ATP6AP2 was predicted using bioinformatics system and the prediction was then validated by luciferase reporter assay.Results: Expression levels of miR-148-3p was low, whilst that of ATP6AP2 was high in GC cell lines. MiR-148a-3p overexpression resulted in the reduction of cell viability in GC cell lines. More so, it was confirmed that miR-148-3p, as a post-transcriptional regulator inhibited ATP6AP2 expression by having a negative association with it in GC cells. More so, ATP6AP2 was found to be a direct target of miR-148a-3p.Conclusion: Our results revealed that miR-148a-3p plays a crucial function in GC development through targeting ATP6AP2. This finding could be explored in the discovery of new therapeutic approaches for GC treatment. Keywords: ATP6AP2, Cell viability, Gastric cancer, miR-148a-3p, Progression

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Chhon, Saophea, Jin Jeon, Joonyup Kim, and Sang Un Park. "Accumulation of Anthocyanins through Overexpression of AtPAP1 in Solanum nigrum Lin. (Black Nightshade)." Biomolecules 10, no. 2 (February 11, 2020): 277. http://dx.doi.org/10.3390/biom10020277.

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Black nightshade (Solanum nigrum) belongs to the Solanaceae family and is used as a medicinal herb with health benefits. It has been reported that the black nightshade plant contains various phytochemicals that are associated with antitumor activities. Here we employed a genetic approach to study the effects of overexpression of Arabidopsis thaliana production of anthocyanin pigment 1 (AtPAP1) in black nightshade. Ectopic expression of AtPAP1 resulted in enhanced accumulation of anthocyanin pigments in vegetative and reproductive tissues of the transgenic plants. Analysis of anthocyanin revealed that delphinidin 3-O-rutinoside-5-O-glucoside, delphinidin 3,5-O-diglucoside, delphinidin 3-O-rutinoside, petunidin 3-O-rutinoside (cis-p-coumaroyl)-5-O-glucoside, petunidin 3-(feruloyl)-rutinoside-5-glucoside, and malvidin 3-(feruloyl)-rutinoside-5-glucoside are highly induced in the leaves of AtPAP1 overexpression lines. Furthermore, ectopic expression of AtPAP1 evoked expression of early and late biosynthetic genes of the general phenylpropanoid and flavonoid pathways that include phenylalanine ammonia-lyase (PAL), cinnamate-4-hydroxylase (C4H), 4-coumarate CoA ligase (4CL), chalcone isomerase (CHI), and quinate hydroxycinnamoyl transferase (HCT), which suggests these genes might be transcriptional targets of AtPAP1 in black nightshade. Concomitantly, the total content of anthocyanin in the transgenic black nightshade plants was higher compared to the control plants, which supports phenotypic changes in color. Our data demonstrate that a major anthocyanin biosynthetic regulator, AtPAP1, can induce accumulation of anthocyanins in the heterologous system of black nightshade through the conserved flavonoid biosynthesis pathway in plants.

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Zavileyskiy, Lev, and Victoria Bunik. "Regulation of p53 Function by Formation of Non-Nuclear Heterologous Protein Complexes." Biomolecules 12, no. 2 (February 18, 2022): 327. http://dx.doi.org/10.3390/biom12020327.

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A transcription factor p53 is activated upon cellular exposure to endogenous and exogenous stresses, triggering either homeostatic correction or cell death. Depending on the stress level, often measurable as DNA damage, the dual outcome is supported by p53 binding to a number of regulatory and metabolic proteins. Apart from the nucleus, p53 localizes to mitochondria, endoplasmic reticulum and cytosol. We consider non-nuclear heterologous protein complexes of p53, their structural determinants, regulatory post-translational modifications and the role in intricate p53 functions. The p53 heterologous complexes regulate the folding, trafficking and/or action of interacting partners in cellular compartments. Some of them mainly sequester p53 (HSP proteins, G6PD, LONP1) or its partners (RRM2B, PRKN) in specific locations. Formation of other complexes (with ATP2A2, ATP5PO, BAX, BCL2L1, CHCHD4, PPIF, POLG, SOD2, SSBP1, TFAM) depends on p53 upregulation according to the stress level. The p53 complexes with SIRT2, MUL1, USP7, TXN, PIN1 and PPIF control regulation of p53 function through post-translational modifications, such as lysine acetylation or ubiquitination, cysteine/cystine redox transformation and peptidyl-prolyl cis-trans isomerization. Redox sensitivity of p53 functions is supported by (i) thioredoxin-dependent reduction of p53 disulfides, (ii) inhibition of the thioredoxin-dependent deoxyribonucleotide synthesis by p53 binding to RRM2B and (iii) changed intracellular distribution of p53 through its oxidation by CHCHD4 in the mitochondrial intermembrane space. Increasing knowledge on the structure, function and (patho)physiological significance of the p53 heterologous complexes will enable a fine tuning of the settings-dependent p53 programs, using small molecule regulators of specific protein–protein interactions of p53.

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Thomsen, LL, E. Oestergaard, A. Bjornsson, H. Stefansson, AC Fasquel, J. Gulcher, K. Stefansson, and J. Olesen. "Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients." Cephalalgia 28, no. 9 (September 2008): 914–21. http://dx.doi.org/10.1111/j.1468-2982.2008.01599.x.

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The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM). Patients with SHM ( n = 105) were identified in a nationwide search in the Danish population. We sequenced all exons and promoter regions of the CACNA1A and ATP1A2 genes in 100 patients with SHM to search for possible SHM mutations. Novel DNA variants were discovered in eight SHM patients, four in exons of the CACNA1A gene and four in exons of the ATP1A2 gene. Six of the variants were considered non-pathogenic. The causal role of the two remaining DNA variants is unknown until functional studies have been made or independent genetic evidence is discovered. Only very few DNA variants were identified in 100 SHM patients, and regardless of whether the identified variants are causal the CACNA1A and ATP1A2 genes are not major genes in SHM.

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Costa, Cinzia, Paolo Prontera, Paola Sarchielli, Alessandra Tonelli, Maria Teresa Bassi, Letizia Maria Cupini, Stefano Caproni, Sabrina Siliquini, Emilio Donti, and Paolo Calabresi. "A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy." Cephalalgia 34, no. 1 (August 5, 2013): 68–72. http://dx.doi.org/10.1177/0333102413498941.

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Background Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A, ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. Case Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). Conclusions The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.

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Hu, Yulong, Zheng Wang, Nannan Ge, Ting Huang, Mingchao Zhang, and Hegui Wang. "Sodium pump alpha-2 subunit (ATP1A2) alleviates cardiomyocyte anoxia–reoxygenation injury via inhibition of endoplasmic reticulum stress-related apoptosis." Canadian Journal of Physiology and Pharmacology 96, no. 5 (May 2018): 515–20. http://dx.doi.org/10.1139/cjpp-2017-0349.

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Previous studies have found decreased functional capacity of the sodium pump (Na+-K+-ATPase) alpha and beta subunits and recovery of Na+-K+-ATPase activity significantly decreased myocyte apoptosis in myocardial ischemia–reperfusion (I/R) injury. However, the potential role of the Na+-K+-ATPase α-2 subunit (ATP1A2) in cardiomyocyte anoxia–reoxygenation (A/R) injury has not been elucidated. Rat myocardial cells were subjected to siRNA transfection followed by A/R injury. Apoptosis and expression of endoplasmic reticulum (ER) stress proteins CHOP, GRP78, and caspase-12 were detected in 4 groups of cells: ATP1A2 siRNA + A/R, control siRNA + A/R, control, and A/R injury model. We found that apoptosis was significantly elevated in the ATP1A2 siRNA + A/R group as compared with control siRNA + A/R, control, and A/R injury model groups (p < 0.05, p < 0.01, and p < 0.05). Furthermore, expression of CHOP, GRP78, and caspase-12 were significantly elevated in the ATP1A2 siRNA + A/R group as compared with control siRNA + A/R, control, and A/R injury model groups (p < 0.05, p < 0.01, and p < 0.05). Our findings suggest that cardiomyocyte ATP1A2 is a target of A/R injury, and its cardioprotective function may be mediated via inhibiting the ER-stress-related apoptosis.

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Staehr, Christian, Lise Hangaard, Elena V. Bouzinova, Sukhan Kim, Rajkumar Rajanathan, Peter Boegh Jessen, Nathan Luque, et al. "Smooth muscle Ca2+ sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation." Journal of Cerebral Blood Flow & Metabolism 39, no. 8 (March 7, 2018): 1570–87. http://dx.doi.org/10.1177/0271678x18761712.

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Familial hemiplegic migraine type 2 (FHM2) is associated with inherited point-mutations in the Na,K-ATPase α2 isoform, including G301R mutation. We hypothesized that this mutation affects specific aspects of vascular function, and thus compared cerebral and systemic arteries from heterozygote mice bearing the G301R mutation (Atp1a2+/−G301R) with wild type (WT). Middle cerebral (MCA) and mesenteric small artery (MSA) function was compared in an isometric myograph. Cerebral blood flow was assessed with Laser speckle analysis. Intracellular Ca2+ and membrane potential were measured simultaneously. Protein expression was semi-quantified by immunohistochemistry. Protein phosphorylation was analysed by Western blot. MSA from Atp1a2+/−G301R and WT showed similar contractile responses. The Atp1a2+/−G301R MCA constricted stronger to U46619, endothelin and potassium compared to WT. This was associated with an increased depolarization, although the Ca2+ change was smaller than in WT. The enhanced constriction of Atp1a2+/−G301R MCA was associated with increased cSrc activation, stronger sensitization to [Ca2+]i and increased MYPT1 phosphorylation. These differences were abolished by cSrc inhibition. Atp1a2+/−G301R mice had reduced resting blood flow through MCA in comparison with WT mice . FHM2-associated mutation leads to elevated contractility of MCA due to sensitization of the contractile machinery to Ca2+, which is mediated via Na,K-ATPase/Src-kinase/MYPT1 signalling.

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Liu, Changyue, and Wei Yue. "The ATP1A2 Mutation Associated with Hemiplegic Migraines: Case Report and Literature Review." Clinical and Translational Neuroscience 6, no. 4 (November 23, 2022): 25. http://dx.doi.org/10.3390/ctn6040025.

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Familial hemiplegic migraine type 2 is a premonitory subtype of migraine caused by an ATP1A2 gene mutation. It is an autosomal dominant genetic disease. Here, we report a 51-year-old woman who had a migraine attack due to a pathogenic ATP1A2 gene mutation. With frequent attacks, the patient developed complete left hemiplegia, a confusion of consciousness and partial seizures. Magnetic resonance imaging showed extensive angiogenic edema in the right cerebral hemisphere. In this article, we review the latest literature and try to explain the above symptoms in our patient with cortical spreading depression (CSD) and ATP1A2 gene mutations.

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Freire de Freitas, Roberto Wagner Júnior, Márcio Flávio Moura de Araújo, Maria Wendiane Gueiros Gaspar, José Cláudio Garcia Lira Neto, Ana Maria Parente Garcia Alencar, Maria Lúcia Zanetti, and Marta Maria Coelho Damasceno. "Comparison of three criteria for metabolic syndrome among Brazilian university students." Nutrition & Food Science 47, no. 4 (July 10, 2017): 543–52. http://dx.doi.org/10.1108/nfs-08-2016-0126.

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Purpose This paper aims to compare the prevalence of metabolic syndrome (MetS) on the basis of three criteria. The diagnostic criteria adopted were those of the International Diabetes Federation, the National Cholesterol Education Program – Adult Treatment Panel III and the American Heart Association/National Heart, Lung and Blood Institute.. Design/methodology/approach A transversal study was undertaken with 691 university students in Fortaleza, Brazil, in 2011-2013. Findings The prevalence of MetS varied considerably according to the criteria used, it being 4.1 per cent for the IDF, 0.7 per cent for the NCEP ATPIII and 1.7 per cent for the revised NCEP ATPIII. The criteria of the IDF presented reasonable agreement in relation to the NCEP ATP III (0.294) and revised NCEP ATP III (0.334). Moderate agreement was found between the NCEP ATPIII/revised NCEP ATPIII. Originality/value There is a need for a universal diagnostic criterion for MetS to obtain uniform and more reliable data for the elaboration of public health policies.

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Hernández-Sánchez, Itzell Eurídice, Israel Maruri-López, Eugenio Pérez Molphe-Balch, Alicia Becerra-Flora, Fabiola Jaimes-Miranda, and Juan F. Jiménez-Bremont. "Evidence for in vivo interactions between dehydrins and the aquaporin AtPIP2B." Biochemical and Biophysical Research Communications 510, no. 4 (March 2019): 545–50. http://dx.doi.org/10.1016/j.bbrc.2019.01.095.

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Rujano, Maria A., Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, et al. "Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects." Journal of Experimental Medicine 214, no. 12 (November 10, 2017): 3707–29. http://dx.doi.org/10.1084/jem.20170453.

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The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that ATP6AP2 deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. The introduction of one of the missense mutations into Drosophila led to reduced survival and altered lipid metabolism. We further demonstrate that in the liver-like fat body, the autophagic dysregulation was associated with defects in lysosomal acidification and mammalian target of rapamycin (mTOR) signaling. Finally, both ATP6AP2 mutations impaired protein stability and the interaction with ATP6AP1, a member of the V0 assembly complex. Collectively, our data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy.

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Binger, Katrina J., Martin Neukam, Sudhir Gopal Tattikota, Fatimunnisa Qadri, Dmytro Puchkov, Diana M. Willmes, Sabrina Wurmsee, et al. "Atp6ap2 deletion causes extensive vacuolation that consumes the insulin content of pancreatic β cells." Proceedings of the National Academy of Sciences 116, no. 40 (September 16, 2019): 19983–88. http://dx.doi.org/10.1073/pnas.1903678116.

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Pancreatic β cells store insulin within secretory granules which undergo exocytosis upon elevation of blood glucose levels. Crinophagy and autophagy are instead responsible to deliver damaged or old granules to acidic lysosomes for intracellular degradation. However, excessive consumption of insulin granules can impair β cell function and cause diabetes. Atp6ap2 is an essential accessory component of the vacuolar ATPase required for lysosomal degradative functions and autophagy. Here, we show that Cre recombinase-mediated conditional deletion of Atp6ap2 in mouse β cells causes a dramatic accumulation of large, multigranular vacuoles in the cytoplasm, with reduction of insulin content and compromised glucose homeostasis. Loss of insulin stores and gigantic vacuoles were also observed in cultured insulinoma INS-1 cells upon CRISPR/Cas9-mediated removal of Atp6ap2. Remarkably, these phenotypic alterations could not be attributed to a deficiency in autophagy or acidification of lysosomes. Together, these data indicate that Atp6ap2 is critical for regulating the stored insulin pool and that a balanced regulation of granule turnover is key to maintaining β cell function and diabetes prevention.

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Santoro, Lucio, Fiore Manganelli, Maria Roberta Fortunato, Maria Virginia Soldovieri, Paolo Ambrosino, Rosa Iodice, Chiara Pisciotta, Alessandra Tessa, Filippo Santorelli, and Maurizio Taglialatela. "A new Italian FHM2 family: Clinical aspects and functional analysis of the disease-associated mutation." Cephalalgia 31, no. 7 (March 11, 2011): 808–19. http://dx.doi.org/10.1177/0333102411399351.

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Objective: To describe a new FHM kindred, and to analyse the functional consequences of the disease-associated ATP1A2 p.G301R mutation in human cellular models grown at 37°C. Patients and methods: Seven patients were clinically evaluated and gave informed consent for molecular analysis. Extra-pyramidal rigidity of the limbs was present in four subjects and in three of them tongue apraxia was also observed. ATP1A2 and CACNA1A were analysed by direct sequencing. Functional consequences of the mutation were investigated by cell viability assays, Western blots, and immunocytochemistry. Three-dimensional models of the human Na+/K+-ATPase α2 subunit were generated by homology modelling using SWISS-MODEL. Findings: Analysis of ATP1A2 showed a heterozygous mutation, c.901G>A predicting the replacement of arginine for glycine at residue 301 (p.G301R). Functional analysis suggested that the mutation completely abolished Na+/K+-ATPase function. Conclusions: The phenotypic spectrum of our FHM2 family includes some peculiar features. Functional data confirm that Na+/K+-ATPase haploinsufficiency caused by the ATP1A2 p.G301R mutation is responsible for FHM in the described family.

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Pelzer, Nadine, Joost Haan, Anine H. Stam, Lisanne S. Vijfhuizen, Stephany C. Koelewijn, Amber Smagge, Boukje de Vries, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, and Gisela M. Terwindt. "Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation." Neurology 90, no. 7 (January 17, 2018): e575-e582. http://dx.doi.org/10.1212/wnl.0000000000004966.

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ObjectiveTo investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A, ATP1A2, or SCN1A differ, and whether the disease may be caused by mutations in other genes.MethodsWe compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in CACNA1A, ATP1A2, or SCN1A with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes. In addition, 47 patients (familial: n = 33; sporadic: n = 14) without mutations in CACNA1A, ATP1A2, or SCN1A were scanned for mutations in novel genes using whole exome sequencing.ResultsPatients with mutations in CACNA1A, ATP1A2, or SCN1A had a lower age at disease onset, larger numbers of affected family members, and more often attacks (1) triggered by mild head trauma, (2) with extensive motor weakness, and (3) with brainstem features, confusion, and brain edema. Mental retardation and progressive ataxia were exclusively found in patients with a mutation. Whole exome sequencing failed to identify pathogenic mutations in new genes.ConclusionsMost patients with hemiplegic migraine without a mutation in CACNA1A, ATP1A2, or SCN1A display a mild phenotype that is more akin to that of common (nonhemiplegic) migraine. A major fourth autosomal dominant gene for hemiplegic migraine remains to be identified. Our observations might guide physicians in selecting patients for mutation screening and in providing adequate genetic counseling.

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Hadaegh, Farzad, Azadeh Zabetian, Maryam Tohidi, Asghar Ghasemi, Farhad Sheikholeslami, and Fereidoun Azizi. "Prevalence of Metabolic Syndrome by the Adult Treatment Panel III, International Diabetes Federation, and World Health Organization Definitions and their Association with Coronary Heart Disease in an Elderly Iranian Population." Annals of the Academy of Medicine, Singapore 38, no. 2 (February 15, 2009): 142–49. http://dx.doi.org/10.47102/annals-acadmedsg.v38n2p142.

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Introduction: To determine the prevalence of the metabolic syndrome (MS) in an Iranian elderly population and show its association with coronary heart disease (CHD). Materials and Methods: This is a cross-sectional study on 720 Iranian men and women aged 65 years who participated in the Tehran Lipid and Glucose Study (TLGS). Logistic regression analysis was used to estimate the odds ratio (OR) of developing CHD in model 1, an age-adjusted model; model 2, adjusted for age, smoking status, premature history of CHD and low-density lipoprotein (LDL) cholesterol; and model 3, adjusted for mentioned variables plus the MS components. Results: The prevalence of MS was 50.8%, 41.8% and 41.9% based on the Adult Treatment Panel (ATPIII), the World Health Organisation (WHO), and the International Diabetes Federation (IDF) definitions, respectively. The IDF definition showed high agreement with the ATPIII definition. Age-adjusted OR (95% CI) of the MS for CHD was 1.6 (1.2 to 2.2) by both the ATPIII and WHO definitions and 1.4 (1.0 to 1.9) by the IDF definition. IDF-defined MS lost its association with CHD in model 2. In model 3, obesity (WHO definition) and high blood pressure (ATPIII and WHO definitions) were associated with CHD. Conclusions: In an elderly Iranian population MS is highly prevalent. ATPIII and WHO definitions seem to be more pertinent than IDF for screening CHD risk. None of these definitions showed association with CHD when considering their components. Key words: Ageing, Cardiovascular disease, Epidemiology, Insulin resistance

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Muslimova, E. F., T. Yu Rebrova, E. A. Archakov, Sh D. Akhmedov, O. V. Budnikova, R. E. Batalov, and S. A. Afanasiev. "Polymorphic variants of genes encoding Ca(2+)-transporting sarcoplasmic reticulum proteins in the progression of chronic heart failure." Russian Journal of Cardiology, no. 10 (November 3, 2019): 48–52. http://dx.doi.org/10.15829/1560-4071-2019-10-48-52.

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Aim. To study the association between polymorphic rs1860561 variants of Ca(2+)-ATPase SERCA2a (ATP2A2) gene and rs3766871 of ryanodine receptor (RYR2) gene and the severity of chronic heart failure (CHF).Material and methods. We determined rs1860561 and rs3766871 variants of the ATP2A2 and RYR2 genes, respectively, in 168 patients with coronary artery disease (CAD) and CHF using real-time polymerase chain reaction.Results. A statistically significant (p=0,046) decrease in the left ventricular ejection fraction in AA homozygotes of the ATP2A2 gene compared to carriers of the G allele was shown. But among GG homozygotes, patients with FC II CHF prevailed and participants with FC I CHF were less common than among patients with genotype GA (p=0,041).Conclusion. The association of the AA genotype carriage for the rs1860561 variant of the ATP2A2 gene encoding Ca(2+)-ATPase SERCA2a, with a decrease in the left ventricle ejection fraction in patients with CHF and CAD was revealed. At the same time, among the GG homozygotes, FC I CHF was the least prevalent. There was no association of the rY3766871 variant of the RYR2 gene with CHF severity.

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Millichap, J. Gordon. "Familial Hemiplegic Migraine With ATP1A2 Mutations." Pediatric Neurology Briefs 21, no. 5 (May 1, 2007): 38. http://dx.doi.org/10.15844/pedneurbriefs-21-5-7.

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Hinton, Ayana, Domenico L. Gatti, and Sharon H. Ackerman. "The Molecular Chaperone, Atp12p, fromHomo sapiens." Journal of Biological Chemistry 279, no. 10 (December 29, 2003): 9016–22. http://dx.doi.org/10.1074/jbc.m312631200.

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Maksemous, Neven, Robert A. Smith, Heidi G. Sutherland, Bridget H. Maher, Omar Ibrahim, Garth A. Nicholson, Elisabeth P. Carpenter, Rod A. Lea, M. Zameel Cader, and Lyn R. Griffiths. "Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine." Cephalalgia Reports 2 (January 1, 2019): 251581631988163. http://dx.doi.org/10.1177/2515816319881630.

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Objective: Hemiplegic migraine in both familial (FHM) and sporadic (SHM) forms is a rare subtype of migraine with aura that can be traced to mutations in the CACNA1A, ATP1A2 and SCN1A genes. It is characterised by severe attacks of typical migraine accompanied by hemiparesis, as well as episodes of complex aura that vary significantly between individuals. Methods: Using a targeted next generation sequencing (NGS) multigene panel, we have sequenced the genomic DNA of 172 suspected hemiplegic migraine cases, in whom no mutation had previously been found by Sanger sequencing (SS) of a limited number of exons with high mutation frequency in FHM genes. Results: Genetic screening identified 29 variants, 10 of which were novel, in 35 cases in the three FHM genes ( CACNA1A, ATP1A2 and SCN1A). Interestingly, in this suspected HM cohort, the ATP1A2 gene harboured the highest number of variants with 24/35 cases (68.6%), while CACNA1A ranked the second gene, with 5 variants identified in 7/35 cases (20%). All detected variants were confirmed by SS and were absent in 100 non-migraine healthy control individuals. Assessment of variants with the American College of Medical Genetics and Genomics guidelines classified 8 variants as pathogenic, 3 as likely pathogenic and 18 as variants of unknown significance. Targeted NGS gene panel increased the diagnostic yield by fourfold over iterative SS in our diagnostics facility. Conclusion: We have identified 29 potentially causative variants in an Australian and New Zealand cohort of suspected HM cases and found that the ATP1A2 gene was the most commonly mutated gene. Our results suggest that screening using NGS multigene panels to investigate ATP1A2 alongside CACNA1A and SCN1A is a clinically useful and efficient method.

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Hiekkala, Marjo Eveliina, Pietari Vuola, Ville Artto, Paavo Häppölä, Elisa Häppölä, Salli Vepsäläinen, Ester Cuenca-León, et al. "The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families." Cephalalgia 38, no. 12 (February 27, 2018): 1849–63. http://dx.doi.org/10.1177/0333102418761041.

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Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. Methods The International Classification of Headache Disorders 3rd edition criteria were used to determine clinical characteristics and occurrence of hemiplegic migraine, based on detailed questionnaires, in a Finnish migraine family collection consisting of 9087 subjects. Involvement of CACNA1A, ATP1A2 and SCN1A was studied using whole exome sequencing data from 293 patients with hemiplegic migraine. Results Overall, hemiplegic migraine patients reported clinically more severe headache and aura episodes than non-hemiplegic migraine with aura patients. We identified two mutations, c.1816G>A (p.Ala606Thr) and c.1148G>A (p.Arg383His), in ATP1A2 and one mutation, c.1994C>T (p.Thr665Met) in CACNA1A. Conclusions The results highlight hemiplegic migraine as a clinically and genetically heterogeneous disease. Hemiplegic migraine patients do not form a clearly separate group with distinct symptoms, but rather have an extreme phenotype in the migraine with aura continuum. We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients, suggesting that there are additional genetic factors contributing to the phenotype.

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Martínez, E., R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, and J. J. Tellería. "Familial Hemiplegic Migraine with Severe Attacks: A New Report withATP1A2Mutation." Case Reports in Neurological Medicine 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/3464285.

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Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described.Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology.Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation. She presented with fever, decreased consciousness, left gaze preference, mixed aphasia, right facial palsy, right hemiplegia, and left crural paresis. Computed tomography (CT) showed no lesion and CT perfusion study evidenced oligohemia in left hemisphere. A normal brain magnetic resonance (MR) was obtained. Impaired consciousness and dysphasia began to improve three days after admission and mild dysphasia and right hemiparesis lasted for 10 days. No recurrences were reported during a follow-up of two years. We identified a variant in heterozygous state in ATP1A2 gene (p.Thr364Met), pathogenic according to different prediction algorithms (SIFT, PolyPhen2, MutationTaster, and Condel).Conclusion. Prolonged and severe attacks with diffuse hypoperfusion in a FHM seemed to be specially related to ATP1A2 mutations, and p.T364M should be considered.

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Zhang, Renshan, Xiaoqian Guan, Yee-Song Law, Feng Sun, Shuai Chen, Kam Bo Wong, and Boon Leong Lim. "AtPAP2 modulates the import of the small subunit of Rubisco into chloroplasts." Plant Signaling & Behavior 11, no. 10 (October 2, 2016): e1239687. http://dx.doi.org/10.1080/15592324.2016.1239687.

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Lopes, Luciana R., Mario Fernando Prieto Peres, Kaate R. J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M. J. M. van den Maagdenberg, and Carlos Alberto Moreira-Filho. "Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families." Arquivos de Neuro-Psiquiatria 64, no. 3a (September 2006): 549–52. http://dx.doi.org/10.1590/s0004-282x2006000400001.

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Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes. The aim of this study was to identify whether CACNA1A and ATP1A2 are or not related to Brazilian FHM. Here we screened four Brazilian FHM families (total of 26 individuals - 13 affected and 13 asymptomatic or normal) for mutations in both genes. We found an amino acid change in a member of family FHM-D (Arg2206Gly). However since this alteration is not present in all affected individuals and is present in one asymptomatic individual it should be considered a polymorphism. Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.

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Kirk, Eric A., Shiva M. Singh, and Charles L. Rice. "ATP2A2 rs3026468 does not associate with quadriceps contractile properties and acute muscle potentiation in humans." Physiological Genomics 51, no. 1 (January 1, 2019): 10–11. http://dx.doi.org/10.1152/physiolgenomics.00085.2018.

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The ATP2A2 gene encodes the SERCA protein required for active calcium reuptake to the sarcoplasmic reticulum in cardiac and slow-twitch skeletal muscle. The ATP2A2 rs3026468 variant has been associated with voluntary strength phenotypes in humans but requires further validation. Here we investigated a homogenous cohort of 80 young, healthy, active Caucasian males who were assessed for maximal isometric strength, voluntary activation, stimulated contractile properties, and muscle potentiation in the quadriceps. A dynamometer was used to record knee extensions, and electrical stimulation was applied to the thigh to elicit a twitch response. DNA was isolated from cheek swabs, and the rs3026468 genotypes were assessed by TaqMan primer quantitative PCR. The results show no association between ATP2A2 rs3026468 variants and muscle strength measures. We conclude there is no effect of the rs3026468 variant in our cohort and that functional influences do not likely contribute to contractile property differences in young healthy men.

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Ding, Qiang, Xiuhu Ding, Shuwen Xia, Fang Zhao, Kunlin Chen, Yong Qian, Shaoxian Cao, et al. "Bta-miR-6531 Regulates Calcium Influx in Bovine Leydig Cells and Is Associated with Sperm Motility." Genes 13, no. 10 (October 3, 2022): 1788. http://dx.doi.org/10.3390/genes13101788.

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MicroRNAs (miRNAs) play key roles in sperm as the regulatory factors involved in fertility and subsequent early embryonic development. Bta-miR-6531 is specifically a highly enriched miRNA in low-motility sperms in previous study. To investigate the mechanism of bta-miR-6531, 508 shared target genes of bta-miR-6531 were predicted using two miRNA target databases (TargetScan7 and miRWalk). According to the Kyoto Encyclopedia of Genes and Genomes (KEGG), the calcium and cAMP signaling pathways were the most enriched of the target genes. A dual-luciferase assay indicated that bta-miR-6531 targeted ATP2A2 mRNA by binding to the coding sequence region. In bovine Leydig cells, bta-miR-6531 overexpression affected the intracellular calcium concentration by restraining ATP2A2 expression. Moreover, we observed high calcium concentrations and high ATP2A2 protein levels in high-motility sperm compared with those in low-motility sperms. Furthermore, high-linkage single-nucleotide polymorphisms (SNPs) of the pre-bta-miR-6531 sequence were identified that related to sperm traits. Genotype TCTC of bta-miR-6531 showed high sperm motility and density and low deformity rate in Holstein bulls. However, the mutation in pre-miR-6531 did not significantly affect mature bta-miR-6531 expression in the sperm or cell models. Our results demonstrate that bta-miR-6531 might involve in sperm motility regulation by targeting ATP2A2 of the calcium signaling pathway in bovine spermatozoa.

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Prontera, P., P. Sarchielli, S. Caproni, C. Bedetti, LM Cupini, P. Calabresi, and C. Costa. "Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications." Cephalalgia 38, no. 2 (January 6, 2017): 361–73. http://dx.doi.org/10.1177/0333102416686347.

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Objective We performed a systematic review on the comorbidities of familial/sporadic hemiplegic migraine (F/SHM) with seizure/epilepsy in patients with CACNA1A, ATP1A2 or SCN1A mutations, to identify the genotypes associated and investigate for the presence of mutational hot spots. Methods We performed a search in MEDLINE and in the Human Gene Mutation and Leiden Open Variation Databases for mutations in the CACNA1A, ATP1A2 and SCN1A genes. After having examined the clinical characteristics of the patients, we selected those having HM and seizures, febrile seizures or epilepsy. For each gene, we determined both the frequency and the positions at protein levels of these mutations, as well as the penetrance of epilepsy within families. Results Concerning F/SHM-Epilepsy1 (F/SHME1) and F/SHME2 endophenotypes, we observed a prevalent involvement of the transmembrane domains, and a strong correlation in F/SHME1 when the positively charged amino acids were involved. The penetrance of epilepsy within the families was highest for patients carrying mutation in the CACNA1A gene (60%), and lower in those having SCN1A (33.3%) and ATP1A2 (30.9%) mutations. Conclusion Among the HM cases with seizure/epilepsy, we observed mutational hot spots in the transmembrane domains of CACNA1A and ATP1A2 proteins. These findings could lead to a better understanding of the pathological mechanisms underlying migraine and epilepsy, therein guaranteeing the most appropriate therapeutic approach.

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Journal articles on the topic 'AtPIP2'

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