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Letteratura scientifica selezionata sul tema "Mitochondrial DNA replication"

Autore: Grafiati

Pubblicato: 11 gennaio 2025

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Articoli di riviste sul tema "Mitochondrial DNA replication"

1

Almannai, Mohammed, Ayman W. El-Hattab e Fernando Scaglia. "Mitochondrial DNA replication: clinical syndromes". Essays in Biochemistry 62, n. 3 (27 giugno 2018): 297–308. http://dx.doi.org/10.1042/ebc20170101.

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Abstract (sommario):

Each nucleated cell contains several hundreds of mitochondria, which are unique organelles in being under dual genome control. The mitochondria contain their own DNA, the mtDNA, but most of mitochondrial proteins are encoded by nuclear genes, including all the proteins required for replication, transcription, and repair of mtDNA. MtDNA replication is a continuous process that requires coordinated action of several enzymes that are part of the mtDNA replisome. It also requires constant supply of deoxyribonucleotide triphosphates(dNTPs) and interaction with other mitochondria for mixing and unifying the mitochondrial compartment. MtDNA maintenance defects are a growing list of disorders caused by defects in nuclear genes involved in different aspects of mtDNA replication. As a result of defects in these genes, mtDNA depletion and/or multiple mtDNA deletions develop in affected tissues resulting in variable manifestations that range from adult-onset mild disease to lethal presentation early in life.

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2

Brieba. "Structure–Function Analysis Reveals the Singularity of Plant Mitochondrial DNA Replication Components: A Mosaic and Redundant System". Plants 8, n. 12 (21 novembre 2019): 533. http://dx.doi.org/10.3390/plants8120533.

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Plants are sessile organisms, and their DNA is particularly exposed to damaging agents. The integrity of plant mitochondrial and plastid genomes is necessary for cell survival. During evolution, plants have evolved mechanisms to replicate their mitochondrial genomes while minimizing the effects of DNA damaging agents. The recombinogenic character of plant mitochondrial DNA, absence of defined origins of replication, and its linear structure suggest that mitochondrial DNA replication is achieved by a recombination-dependent replication mechanism. Here, I review the mitochondrial proteins possibly involved in mitochondrial DNA replication from a structural point of view. A revision of these proteins supports the idea that mitochondrial DNA replication could be replicated by several processes. The analysis indicates that DNA replication in plant mitochondria could be achieved by a recombination-dependent replication mechanism, but also by a replisome in which primers are synthesized by three different enzymes: Mitochondrial RNA polymerase, Primase-Helicase, and Primase-Polymerase. The recombination-dependent replication model and primers synthesized by the Primase-Polymerase may be responsible for the presence of genomic rearrangements in plant mitochondria.

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3

Bradshaw, Patrick C., e David C. Samuels. "A computational model of mitochondrial deoxynucleotide metabolism and DNA replication". American Journal of Physiology-Cell Physiology 288, n. 5 (maggio 2005): C989—C1002. http://dx.doi.org/10.1152/ajpcell.00530.2004.

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We present a computational model of mitochondrial deoxynucleotide metabolism and mitochondrial DNA (mtDNA) synthesis. The model includes the transport of deoxynucleosides and deoxynucleotides into the mitochondrial matrix space, as well as their phosphorylation and polymerization into mtDNA. Different simulated cell types (cancer, rapidly dividing, slowly dividing, and postmitotic cells) are represented in this model by different cytoplasmic deoxynucleotide concentrations. We calculated the changes in deoxynucleotide concentrations within the mitochondrion during the course of a mtDNA replication event and the time required for mtDNA replication in the different cell types. On the basis of the model, we define three steady states of mitochondrial deoxynucleotide metabolism: the phosphorylating state (the net import of deoxynucleosides and export of phosphorylated deoxynucleotides), the desphosphorylating state (the reverse of the phosphorylating state), and the efficient state (the net import of both deoxynucleosides and deoxynucleotides). We present five testable hypotheses based on this simulation. First, the deoxynucleotide pools within a mitochondrion are sufficient to support only a small fraction of even a single mtDNA replication event. Second, the mtDNA replication time in postmitotic cells is much longer than that in rapidly dividing cells. Third, mitochondria in dividing cells are net sinks of cytoplasmic deoxynucleotides, while mitochondria in postmitotic cells are net sources. Fourth, the deoxynucleotide carrier exerts the most control over the mtDNA replication rate in rapidly dividing cells, but in postmitotic cells, the NDPK and TK2 enzymes have the most control. Fifth, following from the previous hypothesis, rapidly dividing cells derive almost all of their mtDNA precursors from the cytoplasmic deoxynucleotides, not from phosphorylation within the mitochondrion.

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4

Falkenberg, Maria. "Mitochondrial DNA replication in mammalian cells: overview of the pathway". Essays in Biochemistry 62, n. 3 (7 giugno 2018): 287–96. http://dx.doi.org/10.1042/ebc20170100.

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Mammalian mitochondria contain multiple copies of a circular, double-stranded DNA genome and a dedicated DNA replication machinery is required for its maintenance. Many disease-causing mutations affect mitochondrial replication factors and a detailed understanding of the replication process may help to explain the pathogenic mechanisms underlying a number of mitochondrial diseases. We here give a brief overview of DNA replication in mammalian mitochondria, describing our current understanding of this process and some unanswered questions remaining.

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Meeusen, Shelly, e Jodi Nunnari. "Evidence for a two membrane–spanning autonomous mitochondrial DNA replisome". Journal of Cell Biology 163, n. 3 (3 novembre 2003): 503–10. http://dx.doi.org/10.1083/jcb.200304040.

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The unit of inheritance for mitochondrial DNA (mtDNA) is a complex nucleoprotein structure termed the nucleoid. The organization of the nucleoid as well as its role in mtDNA replication remain largely unknown. Here, we show in Saccharomyces cerevisiae that at least two populations of nucleoids exist within the same mitochondrion and can be distinguished by their association with a discrete proteinaceous structure that spans the outer and inner mitochondrial membranes. Surprisingly, this two membrane–spanning structure (TMS) persists and self-replicates in the absence of mtDNA. We tested whether TMS functions to direct the replication of mtDNA. By monitoring BrdU incorporation, we observed that actively replicating nucleoids are associated exclusively with TMS. Consistent with TMS's role in mtDNA replication, we found that Mip1, the mtDNA polymerase, is also a stable component of TMS. Taken together, our observations reveal the existence of an autonomous two membrane–spanning mitochondrial replisome as well as provide a mechanism for how mtDNA replication and inheritance may be physically linked.

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Bailey, Laura J., e Aidan J. Doherty. "Mitochondrial DNA replication: a PrimPol perspective". Biochemical Society Transactions 45, n. 2 (13 aprile 2017): 513–29. http://dx.doi.org/10.1042/bst20160162.

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PrimPol, (primase–polymerase), the most recently identified eukaryotic polymerase, has roles in both nuclear and mitochondrial DNA maintenance. PrimPol is capable of acting as a DNA polymerase, with the ability to extend primers and also bypass a variety of oxidative and photolesions. In addition, PrimPol also functions as a primase, catalysing the preferential formation of DNA primers in a zinc finger-dependent manner. Although PrimPol's catalytic activities have been uncovered in vitro, we still know little about how and why it is targeted to the mitochondrion and what its key roles are in the maintenance of this multicopy DNA molecule. Unlike nuclear DNA, the mammalian mitochondrial genome is circular and the organelle has many unique proteins essential for its maintenance, presenting a differing environment within which PrimPol must function. Here, we discuss what is currently known about the mechanisms of DNA replication in the mitochondrion, the proteins that carry out these processes and how PrimPol is likely to be involved in assisting this vital cellular process.

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Holt, I. J., e A. Reyes. "Human Mitochondrial DNA Replication". Cold Spring Harbor Perspectives in Biology 4, n. 12 (9 novembre 2012): a012971. http://dx.doi.org/10.1101/cshperspect.a012971.

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Billard, Pauline, e Delphine A. Poncet. "Replication Stress at Telomeric and Mitochondrial DNA: Common Origins and Consequences on Ageing". International Journal of Molecular Sciences 20, n. 19 (8 ottobre 2019): 4959. http://dx.doi.org/10.3390/ijms20194959.

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Senescence is defined as a stress-induced durable cell cycle arrest. We herein revisit the origin of two of these stresses, namely mitochondrial metabolic compromise, associated with reactive oxygen species (ROS) production, and replicative senescence, activated by extreme telomere shortening. We discuss how replication stress-induced DNA damage of telomeric DNA (telDNA) and mitochondrial DNA (mtDNA) can be considered a common origin of senescence in vitro, with consequences on ageing in vivo. Unexpectedly, mtDNA and telDNA share common features indicative of a high degree of replicative stress, such as G-quadruplexes, D-loops, RNA:DNA heteroduplexes, epigenetic marks, or supercoiling. To avoid these stresses, both compartments use similar enzymatic strategies involving, for instance, endonucleases, topoisomerases, helicases, or primases. Surprisingly, many of these replication helpers are active at both telDNA and mtDNA (e.g., RNAse H1, FEN1, DNA2, RecQ helicases, Top2α, Top2β, TOP3A, DNMT1/3a/3b, SIRT1). In addition, specialized telomeric proteins, such as TERT (telomerase reverse transcriptase) and TERC (telomerase RNA component), or TIN2 (shelterin complex), shuttle from telomeres to mitochondria, and, by doing so, modulate mitochondrial metabolism and the production of ROS, in a feedback manner. Hence, mitochondria and telomeres use common weapons and cooperate to resist/prevent replication stresses, otherwise producing common consequences, namely senescence and ageing.

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Holmes, J. Bradley, Gokhan Akman, Stuart R. Wood, Kiran Sakhuja, Susana M. Cerritelli, Chloe Moss, Mark R. Bowmaker, Howard T. Jacobs, Robert J. Crouch e Ian J. Holt. "Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication". Proceedings of the National Academy of Sciences 112, n. 30 (10 luglio 2015): 9334–39. http://dx.doi.org/10.1073/pnas.1503653112.

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Encoding ribonuclease H1 (RNase H1) degrades RNA hybridized to DNA, and its function is essential for mitochondrial DNA maintenance in the developing mouse. Here we define the role of RNase H1 in mitochondrial DNA replication. Analysis of replicating mitochondrial DNA in embryonic fibroblasts lacking RNase H1 reveals retention of three primers in the major noncoding region (NCR) and one at the prominent lagging-strand initiation site termed Ori-L. Primer retention does not lead immediately to depletion, as the persistent RNA is fully incorporated in mitochondrial DNA. However, the retained primers present an obstacle to the mitochondrial DNA polymerase γ in subsequent rounds of replication and lead to the catastrophic generation of a double-strand break at the origin when the resulting gapped molecules are copied. Hence, the essential role of RNase H1 in mitochondrial DNA replication is the removal of primers at the origin of replication.

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Menger, Katja E., Alejandro Rodríguez-Luis, James Chapman e Thomas J. Nicholls. "Controlling the topology of mammalian mitochondrial DNA". Open Biology 11, n. 9 (settembre 2021): 210168. http://dx.doi.org/10.1098/rsob.210168.

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Abstract (sommario):

The genome of mitochondria, called mtDNA, is a small circular DNA molecule present at thousands of copies per human cell. MtDNA is packaged into nucleoprotein complexes called nucleoids, and the density of mtDNA packaging affects mitochondrial gene expression. Genetic processes such as transcription, DNA replication and DNA packaging alter DNA topology, and these topological problems are solved by a family of enzymes called topoisomerases. Within mitochondria, topoisomerases are involved firstly in the regulation of mtDNA supercoiling and secondly in disentangling interlinked mtDNA molecules following mtDNA replication. The loss of mitochondrial topoisomerase activity leads to defects in mitochondrial function, and variants in the dual-localized type IA topoisomerase TOP3A have also been reported to cause human mitochondrial disease. We review the current knowledge on processes that alter mtDNA topology, how mtDNA topology is modulated by the action of topoisomerases, and the consequences of altered mtDNA topology for mitochondrial function and human health.

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Tesi sul tema "Mitochondrial DNA replication"

1

Bowmaker, Mark Richard. "Replication of the mouse mitochondrial DNA". Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.614689.

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Korhonen, Jenny. "Functional and structural characterization of the human mitochondrial helicase /". Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-102-2/.

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Cluett, Tricia Joy. "The mechanism of mammalian mitochondrial DNA replication". Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611167.

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Dzionek, Karol Wiktor. "The relationship between mitochondrial DNA transcription and replication". Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648311.

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Duch, Anna Marta. "In organello studies of mammalian mitochondrial DNA replication". Thesis, University of Cambridge, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648093.

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6

Bailey, L. J. "Mitochondrial DNA metabolism : organisation, structure, and replication stalling". Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.596253.

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Abstract (sommario):

A mouse model was generated that accumulates multiple point mutations throughout the mitochondrial genome, due to an exonuclease deficient DNA polymerase. The work described here has focused on studying the structure of the mitochondrial genome of these mice and has shown that these mice suffer an increase in replication stalling. Breakage of stalled molecules at specific points, leads to the generation of a linear 11 kb DNA molecule and aborts replication. It is proposed here that these numerous rounds of futile replication lead to ‘cellular exhaustion’ and therefore the premature ageing phenotype of the mutator mouse. 5-15% of mtDNA molecules contain a third strand of DNA, 7S DNA, in the non-coding region, forming a displacement (D) loop structure. Here two-dimensional agarose gel electrophoresis and circular reverse transcription of PCR indicate that an additional strand of RNA is present in the NCR of the opposite orientation to 7S DNA. Therefore, this region may form a DNA-RNA bubble structure of D/R-loops rather than just a simple D-loop. Mitochondrial DNA is organised into nucleoid complexes with a number of DNA binding proteins. One of these proteins, ATAD3B, has been demonstrated to have a preference for binding to D-loop structures. Therefore, a fragment of recombinant ATAD3B has been studied to determine further details of its binding properties and inform future studies in living cells. This work has identified the Q149R polymorphism as a variant that increases the ability of the protein to bind single and double stranded DNA, with only minor affects on D-loop binding. It is proposed that this protein has a role in the regulation of mtDNA topology.

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Gooding, Christopher Michael. "Mitochondrial DNA replication and transmission in Saccharomyces cerevisiae". Thesis, University of Hertfordshire, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.303447.

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8

Spikings, Emma Catherine. "Mitochondrial DNA replication in pre-implantation embryonic development". Thesis, University of Birmingham, 2007. http://etheses.bham.ac.uk//id/eprint/45/.

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All eukaryotic cells possess mitochondrial DNA (mtDNA), which is maternally inherited through the oocyte, its replication being regulated by nuclear-encoded replication factors. It was hypothesised that mtDNA replication is highly regulated in oocytes, pre-implantation embryos and embryonic stem cells (ESCs) and that this may be disrupted following nuclear transfer (NT). MtDNA copy number decreased between 2-cell and 8-cell staged porcine embryos and increased between the morula and expanded blastocyst stages, coinciding with increased expression of mtDNA replication factors. Competent porcine oocytes replicated their mtDNA prior to and during in vitro maturation to produce and maintain the 100000 mtDNA copies required for fertilisation. Those oocytes in which mtDNA replication was delayed had reduced developmental ability. Expression of pluripotency-associated genes decreased as murine ESCs differentiated into embryoid bodies, although expression of mtDNA replication factors did not increase until the stage equivalent to organogenesis. Cross-species NT embryos in which the donor cell-derived mtDNA was replicated produced decreased developmental outcomes compared to those in which no mtDNA replication took place. Disruption of the strict regulation of mtDNA replication that occurs during early embryogenesis, as is likely following NT, may therefore contribute to the reduced developmental ability of embryos produced using such techniques.

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Johnson, Allison Anne. "Fidelity of replication by the mitochondrial DNA polymerase and toxicity of nucleoside analogs /". Full text (PDF) from UMI/Dissertation Abstracts International, 2000. http://wwwlib.umi.com/cr/utexas/fullcit?p3004298.

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Sage, Jay M. "Support of Mitochondrial DNA Replication by Human Rad51: A Dissertation". eScholarship@UMMS, 2011. https://escholarship.umassmed.edu/gsbs_diss/574.

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The function of homologous DNA recombination in human mitochondria has been a topic of ongoing debate for many years, with implications for fields ranging from DNA repair and mitochondrial disease to population genetics. While genetic and biochemical evidence supports the presence of a mitochondrial recombination activity, the purpose for this activity and the proteins involved have remained elusive. The work presented in this thesis was designed to evaluate the mitochondrial localization of the major recombinase protein in human cells, Rad51, as well as determine what function it plays in the maintenance of mitochondrial DNA (mtDNA) copy number that is critical for production of chemical energy through aerobic respiration. The combination of subcellular fractionation with immunoblotting and immunoprecipitation approaches used in this study clearly demonstrates that Rad51 is a bona fide mitochondrial protein that localizes to the matrix compartment following oxidative stress, where it physically interacts with mtDNA. Rad51 was found to be critical for mtDNA copy number maintenance under stress conditions. This requirement for Rad51 was found to be completely dependent on ongoing mtDNA replication, as treatment with the DNA polymerase gamma (Pol ϒ) inhibitor, ddC, suppresses both recruitment of Rad51 to the mitochondria following the addition of stress, as well as the mtDNA degradation observed when Rad51 has been depleted from the cell. The data presented here support a model in which oxidative stress induces a three-part response: (1) The recruitment of repair factors including Rad51 to the mitochondrial matrix, (2) the activation of mtDNA degradation systems to eliminate extensively or persistently damaged mtDNA, and (3) the increase in mtDNA replication in order to maintain copy number. The stress-induced decrease in mtDNA copy number observed when Rad51 is depleted is likely the result of failure to stabilize or repair replication forks that encounter blocking lesions resulting in further damaged to the mtDNA and its eventual degradation.

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Libri sul tema "Mitochondrial DNA replication"

1

MITOCHONDRIAL DNA DOUBLE-STRAND BREAKS: IN REPLICATION AND IN REPAIR. Shreveport, Louisiana, USA: Louisiana State University Health Sciences Center-Shreveport, Louisiana, USA, 2017.

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2

Replikation des mobilen Introns (plDNA) in Mitochondrien von Podospora anserina: Mechanismus und Auswirkungen auf die Alterung des Pilzes. Berlin: J. Cramer, 1994.

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Capitoli di libri sul tema "Mitochondrial DNA replication"

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Keshav, Kylie F., e Shonen Yoshida. "Mitochondrial DNA Replication". In Mitochondrial DNA Mutations in Aging, Disease and Cancer, 101–14. Berlin, Heidelberg: Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-662-12509-0_5.

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Annuario, Emily, Kristal Ng e Alessio Vagnoni. "High-Resolution Imaging of Mitochondria and Mitochondrial Nucleoids in Differentiated SH-SY5Y Cells". In Methods in Molecular Biology, 291–310. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-1990-2_15.

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AbstractMitochondria are highly dynamic organelles which form intricate networks with complex dynamics. Mitochondrial transport and distribution are essential to ensure proper cell function, especially in cells with an extremely polarised morphology such as neurons. A layer of complexity is added when considering mitochondria have their own genome, packaged into nucleoids. Major mitochondrial morphological transitions, for example mitochondrial division, often occur in conjunction with mitochondrial DNA (mtDNA) replication and changes in the dynamic behaviour of the nucleoids. However, the relationship between mtDNA dynamics and mitochondrial motility in the processes of neurons has been largely overlooked. In this chapter, we describe a method for live imaging of mitochondria and nucleoids in differentiated SH-SY5Y cells by instant structured illumination microscopy (iSIM). We also include a detailed protocol for the differentiation of SH-SY5Y cells into cells with a pronounced neuronal-like morphology and show examples of coordinated mitochondrial and nucleoid motility in the long processes of these cells.

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3

Holt, Ian J., Antonella Spinazzola, Mirian C. H. Janssen e Johannes N. Spelbrink. "Disorders of Replication, Transcription and Translation of Mitochondrial DNA". In Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 843–87. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-67727-5_45.

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Oliveira, Marcos T., e Laurie S. Kaguni. "Comparative Purification Strategies for Drosophila and Human Mitochondrial DNA Replication Proteins: DNA Polymerase γ and Mitochondrial Single-Stranded DNA-Binding Protein". In Methods in Molecular Biology, 37–58. Totowa, NJ: Humana Press, 2009. http://dx.doi.org/10.1007/978-1-59745-521-3_3.

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Goffart, Steffi, e Jaakko Pohjoismäki. "Analysis of Mitochondrial DNA Replication by Two-Dimensional Agarose Gel Electrophoresis". In Methods in Molecular Biology, 241–66. New York, NY: Springer US, 2023. http://dx.doi.org/10.1007/978-1-0716-2922-2_18.

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John, Justin C. St, e Keith H. S. Campbell. "The Consequences of Reprogramming a Somatic Cell for Mitochondrial DNA Transmission, Inheritance and Replication". In Nuclear Reprogramming and Stem Cells, 83–97. Totowa, NJ: Humana Press, 2011. http://dx.doi.org/10.1007/978-1-61779-225-0_8.

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Hidaka, Takuya. "Allele-Specific Replication Inhibition of Mitochondrial DNA by MITO-PIP Conjugated with Alkylation Reagent". In Springer Theses, 41–65. Singapore: Springer Singapore, 2022. http://dx.doi.org/10.1007/978-981-16-8436-4_3.

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Kolesar, Jill E., e Brett A. Kaufman. "Using Two-Dimensional Intact Mitochondrial DNA (mtDNA) Agarose Gel Electrophoresis (2D-IMAGE) to Detect Changes in Topology Associated with Mitochondrial Replication, Transcription, and Damage". In Methods in Molecular Biology, 25–42. New York, NY: Springer US, 2020. http://dx.doi.org/10.1007/978-1-0716-0323-9_3.

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de Haas, Jan M., Frank Kors, Ad J. Kool e H. John J. Nijkamp. "Isolation of Putative Petunia Hybrida Chloroplast and Mitochondrial Replication Origins and Analysis of the Initiation of DNA Synthesis". In Plant Molecular Biology, 653–54. Boston, MA: Springer US, 1987. http://dx.doi.org/10.1007/978-1-4615-7598-6_87.

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Kobayashi, Yuki, Yu Kanesaki, Mitsumasa Hanaoka e Kan Tanaka. "Control of Cell Nuclear DNA Replication by Chloroplast and Mitochondrion". In Cyanidioschyzon merolae, 195–204. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-6101-1_13.

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Atti di convegni sul tema "Mitochondrial DNA replication"

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Silva, Ana Marina Dutra Ferreira da, Igor Dias Brockhausen, Alessandra Lima Nogueira Tolentino, Ana Laura Moura e Alzira Alves de Siqueira Carvalho. "A467T variant of the polg gene: description of two clinical cases". In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.669.

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Abstract (sommario):

Introduction: Variations in the POLG gene are the most common causes of mitochondrial disease of autosomal inheritance, and may be present in about 2% of the population. Case report: Case 1. CMAM, male, 48-year-old, complaining of bilateral eyelid ptosis with onset in adolescence. Since the age of six, he has been diagnosed with epilepsy. After five years of follow-up, he developed sensory ataxia. After 10 years he began to present dysarthria, dysphagia, tremor and pyramidal syndrome. Case 2. ASB, female, 42 years old, at 20 years old presented generalized clonic tonic crisis during the second and third trimesters of pregnancy; at 35 years of age she complained of tingling in plants and legs; at 37 years she noticed bilateral eyelid ptosis and at 39 years she noticed the presence of slurred speech and fatigue on small efforts. He has 3 siblings with similar symptoms and great difficulty walking. No history of consanguinity. Propedeutics: Normal serum lactate and CPK dosage; muscle biopsy showed variation in the caliber of muscle fibers, with the presence of “ragged red fibers” in Gomori’s Trichrome stain. Cranial magnetic resonance imaging: mild cerebellar atrophy in patient 1 and normal in patient 2. Electroneuromyography reveled absence of sensory action potentials in all nerves studied in both cases. New generation sequencing myopathy panel revealed pathogenic variant in homozygosis in the POLG c.1399G>A gene (p.Ala467Thr). Results: The patients received the diagnosis of mitochondrial disease, presenting complex clinical phenotype. Conclusion: DNA polymerase gamma is the enzyme responsible for replicating and maintaining mitochondrial DNA, encoded by nuclear DNA. The c.1399G>A variant in exon7 causes a replacement of an alanine with threonine (A467T), and is one of the causes of ataxia, such as spinocerebellar ataxia with epilepsy; autosomal recessive mitochondrial ataxia, sensory neuropathy, dysarthria and ophthalmoparesis and myoclonic epilepsy, myopathy and sensory ataxia. However, most of the time, they present a continuum between the phenotypes described.

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