Статті в журналах: "Mitochondriopathies"

1

Finsterer, J. "Mitochondriopathies." European Journal of Neurology 11, no. 3 (March 2004): 163–86. http://dx.doi.org/10.1046/j.1351-5101.2003.00728.x.

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2

Chinnery, P. F., and P. G. Griffiths. "Optic mitochondriopathies." Neurology 64, no. 6 (March 21, 2005): 940–41. http://dx.doi.org/10.1212/01.wnl.0000157285.93611.b2.

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3

Swerdlow, Russell H. "The Neurodegenerative Mitochondriopathies." Journal of Alzheimer's Disease 17, no. 4 (July 23, 2009): 737–51. http://dx.doi.org/10.3233/jad-2009-1095.

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4

Tardieu, M., B. Barret, and S. Blanche. "Antiviraux et mitochondriopathies." Archives de Pédiatrie 8 (May 2001): 327–28. http://dx.doi.org/10.1016/s0929-693x(01)80062-2.

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5

Gomes, Sérgio. "A review of mitochondrial disease in dogs." Companion Animal 26, no. 11 (December 2, 2021): 257–64. http://dx.doi.org/10.12968/coan.2021.0018.

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Mitochondria are maternally inherited cellular organelles located in the cytoplasm of most eukaryotic cells. Mitochondrial diseases are a type of metabolic disorder, involving the respiratory chain under the control of both the mitochondrial DNA and nuclear DNA. In dogs, mitochondriopathies are considered rare, with few clinical syndromes having had their structural, biochemical and genetic basis identified. In this review, the basis for suspecting a mitochondrial disease clinically is summarised, with particular focus on mitochondrial encephalopathies, encephalomyelopathies and neuropathies. Recognisable confirmed mitochondriopathies including spongiform leukoencephalomyelopathy, Alaskan Husky encephalopathy, Leigh-like subacute necrotising encephalopathy and sensory ataxic neuropathy in the Golden Retriever are described in detail, alongside previously reported individual cases of presumptive mitochondriopathies of unknown origin. Genetic mutations reported in the literature are reviewed. A clear classification for mitochondrial diseases in veterinary medicine is lacking, and this review is the first to address this class of diseases specifically in dogs.

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6

Ben Chehida, A., E. Ben Arab, S. Khatrouch, M. Zribi, H. Boudabous, and M. S. Abdelmoula. "Manifestations endocriniennes dans les mitochondriopathies." Annales d'Endocrinologie 83, no. 5 (October 2022): 301–2. http://dx.doi.org/10.1016/j.ando.2022.07.074.

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7

Griggs, Robert C., and George Karpati. "Muscle Pain, Fatigue, and Mitochondriopathies." New England Journal of Medicine 341, no. 14 (September 30, 1999): 1077–78. http://dx.doi.org/10.1056/nejm199909303411411.

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8

Ruitenbeek, W., R. Sengers, R. Van Laack, F. Trijbels, J. Bakkeren, A. Janssen, and O. Van Diggelen. "150 ANTENATAL DIAGNOSIS OF MITOCHONDRIOPATHIES." Pediatric Research 20, no. 10 (October 1986): 1059. http://dx.doi.org/10.1203/00006450-198610000-00205.

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9

Liskova, Alena, Marek Samec, Lenka Koklesova, Erik Kudela, Peter Kubatka, and Olga Golubnitschaja. "Mitochondriopathies as a Clue to Systemic Disorders—Analytical Tools and Mitigating Measures in Context of Predictive, Preventive, and Personalized (3P) Medicine." International Journal of Molecular Sciences 22, no. 4 (February 18, 2021): 2007. http://dx.doi.org/10.3390/ijms22042007.

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The mitochondrial respiratory chain is the main site of reactive oxygen species (ROS) production in the cell. Although mitochondria possess a powerful antioxidant system, an excess of ROS cannot be completely neutralized and cumulative oxidative damage may lead to decreasing mitochondrial efficiency in energy production, as well as an increasing ROS excess, which is known to cause a critical imbalance in antioxidant/oxidant mechanisms and a “vicious circle” in mitochondrial injury. Due to insufficient energy production, chronic exposure to ROS overproduction consequently leads to the oxidative damage of life-important biomolecules, including nucleic acids, proteins, lipids, and amino acids, among others. Different forms of mitochondrial dysfunction (mitochondriopathies) may affect the brain, heart, peripheral nervous and endocrine systems, eyes, ears, gut, and kidney, among other organs. Consequently, mitochondriopathies have been proposed as an attractive diagnostic target to be investigated in any patient with unexplained progressive multisystem disorder. This review article highlights the pathomechanisms of mitochondriopathies, details advanced analytical tools, and suggests predictive approaches, targeted prevention and personalization of medical services as instrumental for the overall management of mitochondriopathy-related cascading pathologies.

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10

Swerdlow, Russell. "Mitochondrial Medicine and the Neurodegenerative Mitochondriopathies." Pharmaceuticals 2, no. 3 (December 3, 2009): 150–67. http://dx.doi.org/10.3390/ph2030150.

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11

Koklesova, Lenka, Alena Liskova, Marek Samec, Kevin Zhai, Raghad Khalid AL-Ishaq, Ondrej Bugos, Miroslava Šudomová, et al. "Protective Effects of Flavonoids Against Mitochondriopathies and Associated Pathologies: Focus on the Predictive Approach and Personalized Prevention." International Journal of Molecular Sciences 22, no. 16 (August 11, 2021): 8649. http://dx.doi.org/10.3390/ijms22168649.

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Multi-factorial mitochondrial damage exhibits a “vicious circle” that leads to a progression of mitochondrial dysfunction and multi-organ adverse effects. Mitochondrial impairments (mitochondriopathies) are associated with severe pathologies including but not restricted to cancers, cardiovascular diseases, and neurodegeneration. However, the type and level of cascading pathologies are highly individual. Consequently, patient stratification, risk assessment, and mitigating measures are instrumental for cost-effective individualized protection. Therefore, the paradigm shift from reactive to predictive, preventive, and personalized medicine (3PM) is unavoidable in advanced healthcare. Flavonoids demonstrate evident antioxidant and scavenging activity are of great therapeutic utility against mitochondrial damage and cascading pathologies. In the context of 3PM, this review focuses on preclinical and clinical research data evaluating the efficacy of flavonoids as a potent protector against mitochondriopathies and associated pathologies.

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12

Taibi, B., N. Allali, and L. Chat. "Apport de l’IRM cérébrale dans les mitochondriopathies." Journal of Neuroradiology 47, no. 2 (March 2020): 125. http://dx.doi.org/10.1016/j.neurad.2020.01.064.

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13

Byrne, Edward, Sangot Marzuki, and Xenia Dennett. "Current perspectives in the study of human mitochondriopathies." Medical Journal of Australia 149, no. 1 (July 1988): 30–33. http://dx.doi.org/10.5694/j.1326-5377.1988.tb120480.x.

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14

Kraoua, I., H. Benrhouma, I. Marouani, S. Hamdi, N. Fradj, A. Rouissi, S. Zekri, N. Kaabachi, M. Jaafoura, and N. Gouider-Khouja. "PO17-TU-14 Diagnosis of mitochondriopathies in Tunisia." Journal of the Neurological Sciences 285 (October 2009): S243. http://dx.doi.org/10.1016/s0022-510x(09)70926-8.

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15

Huizing, Marjan, Vito DePinto, Wim Ruitenbeek, Frans J. M. Trijbels, Lambert P. van den Heuvel, and Udo Wendel. "Importance of mitochondrial transmembrane processes in human mitochondriopathies." Journal of Bioenergetics and Biomembranes 28, no. 2 (April 1996): 109–14. http://dx.doi.org/10.1007/bf02110640.

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16

Nagahashi-Marie, Suely Kazue. "Mitochondriopathies: contribution to the study of mitochondrial DNA mutations." Arquivos de Neuro-Psiquiatria 55, no. 2 (June 1997): 340. http://dx.doi.org/10.1590/s0004-282x1997000200029.

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17

Swerdlow, Russell H. "Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies." Journal of Neuroscience Research 85, no. 15 (2007): 3416–28. http://dx.doi.org/10.1002/jnr.21167.

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18

Bosche, Jürgen, Wolfgang Hammerstein, Eva Neuen-Jacob, and Ralf Schober. "Variation in retinal changes and muscle pathology in mitochondriopathies." Graefe's Archive for Clinical and Experimental Ophthalmology 227, no. 6 (November 1989): 578–83. http://dx.doi.org/10.1007/bf02169456.

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19

Iommarini, L., A. Maresca, L. Caporali, M. L. Valentino, R. Liguori, C. Giordano, and V. Carelli. "Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies." Neurology 79, no. 14 (September 19, 2012): 1517–19. http://dx.doi.org/10.1212/wnl.0b013e31826d5f72.

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20

Ruitenbeek, W., R. C. A. Sengers, J. M. F. Trijbels, A. J. M. Janssen, and J. A. J. M. Bakkeren. "The use of chorionic villi in prenatal diagnosis of mitochondriopathies." Journal of Inherited Metabolic Disease 15, no. 3 (May 1992): 303–6. http://dx.doi.org/10.1007/bf02435962.

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21

Wilkins, Heather M., Steven M. Carl, and Russell H. Swerdlow. "Cytoplasmic hybrid (cybrid) cell lines as a practical model for mitochondriopathies." Redox Biology 2 (2014): 619–31. http://dx.doi.org/10.1016/j.redox.2014.03.006.

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22

N., Santosh, Prahlad Kadambi, Ravi Kyaddigeri, Radha Rao, and Hemanth Kumar N. "Rare case report of mitochondriopathy." International Journal of Contemporary Pediatrics 10, no. 6 (May 26, 2023): 969–71. http://dx.doi.org/10.18203/2349-3291.ijcp20231512.

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We present the case of a term male neonate who was apparently well baby and deteriorated with hypoglycemic episode followed by deterioration with the child going in for respiratory failure and subsequently shock requiring ventilation and inotropic support which was refractory to all treatment, eventually resulting in a mortality. Investigative panel reports later showed that the baby had a mitochondriopathy-primary mitochondrial myopathy, which was the diagnosis responsible for the baby’s clinical presentation. Although mitochondriopathies do not have a specific treatment, early diagnosis of milder variants and understanding their pathophysiology helps in further facilitating diagnostic approach for the future.

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23

Beaudonnet, G., C. Denier, C. Lacroix, A. Slama, and D. Adams. "Les neuropathies des mitochondriopathies : étude de 18 cas et revue de la littérature." Revue Neurologique 169 (April 2013): A42. http://dx.doi.org/10.1016/j.neurol.2013.01.091.

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24

Das, Anibh M., Ulrike Steuerwald, and Sabine Illsinger. "Inborn Errors of Energy Metabolism Associated with Myopathies." Journal of Biomedicine and Biotechnology 2010 (2010): 1–19. http://dx.doi.org/10.1155/2010/340849.

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Анотація:

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.

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25

Citrigno, Luigi, Antonio Qualtieri, Annamaria Cerantonio, Selene De Benedittis, Olivier Gallo, Gemma Di Palma, Patrizia Spadafora, and Francesca Cavalcanti. "Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies." Journal of the Neurological Sciences 457 (February 2024): 122869. http://dx.doi.org/10.1016/j.jns.2024.122869.

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26

Dongre, Kanchan, Anja Jungo, Selina Späni, Yvonne Zysset, and Anne Leuppi-Taegtmeyer. "Disease-Drug Interactions Requiring Special Attention." Praxis 111, no. 12 (September 2022): 700–705. http://dx.doi.org/10.1024/1661-8157/a003923.

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Abstract. This short review addresses disease-drug interactions requiring special attention, namely interactions between common conditions and over-the-counter medication and interactions between rare conditions and drugs that are absolutely contraindicated. We specifically examine over-the-counter analgesics, antiemetics and drugs used to treat allergy symptoms and underlying disease conditions they can exacerbate. Resources for avoiding disease-drug interactions in patients with rare conditions, such as myasthenia gravis, glucose-6-phosphate deficiency, mitochondriopathies and long QT-syndrome are given. We also discuss methods for avoiding disease-drug interactions in clinical practice. These include awareness, regular diagnosis- and drug-history taking, consulting the product information, good communication between healthcare providers and patient education. Furthermore, pharmacovigilance activities help in the early identification and characterization of adverse drug reactions resulting from disease-drug interactions.

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27

Koklesova, Lenka, Marek Samec, Alena Liskova, Kevin Zhai, Dietrich Büsselberg, Frank A. Giordano, Peter Kubatka, and Olga Golunitschaja. "Mitochondrial impairments in aetiopathology of multifactorial diseases: common origin but individual outcomes in context of 3P medicine." EPMA Journal 12, no. 1 (March 2021): 27–40. http://dx.doi.org/10.1007/s13167-021-00237-2.

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AbstractMitochondrial injury plays a key role in the aetiopathology of multifactorial diseases exhibiting a “vicious circle” characteristic for pathomechanisms of the mitochondrial and multi-organ damage frequently developed in a reciprocal manner. Although the origin of the damage is common (uncontrolled ROS release, diminished energy production and extensive oxidative stress to life-important biomolecules such as mtDNA and chrDNA), individual outcomes differ significantly representing a spectrum of associated pathologies including but not restricted to neurodegeneration, cardiovascular diseases and cancers. Contextually, the role of predictive, preventive and personalised (PPPM/3P) medicine is to introduce predictive analytical approaches which allow for distinguishing between individual outcomes under circumstance of mitochondrial impairments followed by cost-effective targeted prevention and personalisation of medical services. Current article considers innovative concepts and analytical instruments to advance management of mitochondriopathies and associated pathologies.

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28

Fu, X., P. Rinaldo, S. H. Hahn, H. Kodama, and S. Packman. "Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes." Journal of Inherited Metabolic Disease 26, no. 1 (July 2003): 55–66. http://dx.doi.org/10.1023/a:1024027630589.

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29

Lehmann Urban, Diana, Leila Motlagh Scholle, Kerstin Alt, Albert C. Ludolph, and Angela Rosenbohm. "Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation." Diagnostics 10, no. 2 (January 26, 2020): 68. http://dx.doi.org/10.3390/diagnostics10020068.

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Mitochondrial dysfunction is known to play a key role in the pathophysiological pathway of neurodegenerative disorders. Nuclear-encoded proteins are involved in mtDNA replication, including DNA polymerase gamma, which is the only known replicative mtDNA polymerase, encoded by nuclear genes Polymerase gamma 1 (POLG) and Polymerase gamma 2 (POLG2). POLG mutations are well-known as a frequent cause of mitochondrial myopathies of nuclear origin. However, only rare descriptions of POLG2 mutations leading to mitochondriopathies exist. Here we describe a 68-year-old woman presenting with a 20-year history of camptocormia, mild proximal weakness, and moderate CK increase. Muscle histology showed COX-negative fibres. Genetic analysis by next generation sequencing revealed an already reported heterozygous c.1192-8_1207dup24 mutation in the POLG2 gene. This is the first report on a POLG2 mutation leading to camptocormia as the main clinical phenotype, extending the phenotypic spectrum of POLG2 associated diseases. This underlines the broad phenotypic spectrum found in mitochondrial diseases, especially in mitochondrial disorders of nuclear origin.

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30

Paoli, Antonio, Antonino Bianco, Ernesto Damiani, and Gerardo Bosco. "Ketogenic Diet in Neuromuscular and Neurodegenerative Diseases." BioMed Research International 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/474296.

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An increasing number of data demonstrate the utility of ketogenic diets in a variety of metabolic diseases as obesity, metabolic syndrome, and diabetes. In regard to neurological disorders, ketogenic diet is recognized as an effective treatment for pharmacoresistant epilepsy but emerging data suggests that ketogenic diet could be also useful in amyotrophic lateral sclerosis, Alzheimer, Parkinson’s disease, and some mitochondriopathies. Although these diseases have different pathogenesis and features, there are some common mechanisms that could explain the effects of ketogenic diets. These mechanisms are to provide an efficient source of energy for the treatment of certain types of neurodegenerative diseases characterized by focal brain hypometabolism; to decrease the oxidative damage associated with various kinds of metabolic stress; to increase the mitochondrial biogenesis pathways; and to take advantage of the capacity of ketones to bypass the defect in complex I activity implicated in some neurological diseases. These mechanisms will be discussed in this review.

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31

Ramakrishna, Ramprasad, Jeremy S. Edwards, Andrew McCulloch, and Bernhard O. Palsson. "Flux-balance analysis of mitochondrial energy metabolism: consequences of systemic stoichiometric constraints." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 280, no. 3 (March 1, 2001): R695—R704. http://dx.doi.org/10.1152/ajpregu.2001.280.3.r695.

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Mitochondrial metabolism is a critical component in the functioning and maintenance of cellular organs. The stoichiometry of biochemical reaction networks imposes constraints on mitochondrial function. A modeling framework, flux-balance analysis (FBA), was used to characterize the optimal flux distributions for maximal ATP production in the mitochondrion. The model predicted the expected ATP yields for glucose, lactate, and palmitate. Genetic defects that affect mitochondrial functions have been implicated in several human diseases. FBA can characterize the metabolic behavior due to genetic deletions at the metabolic level, and the effect of mutations in the tricarboxylic acid (TCA) cycle on mitochondrial ATP production was simulated. The mitochondrial ATP production is severely affected by TCA-cycle mutations. In addition, the model predicts the secretion of TCA-cycle intermediates, which is observed in clinical studies of mitochondriopathies such as those associated with fumarase deficiency. The model provides a systemic perspective to characterize the effect of stoichiometric constraints and specific metabolic fluxes on mitochondrial function.

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32

Khoreva, M. A., and I. V. Smagina. "Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations." Russian neurological journal 25, no. 4 (October 19, 2020): 4–13. http://dx.doi.org/10.30629/2658-7947-2020-25-4-4-13.

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Fahr disease is a rare hereditary or sporadic neurological condition characterized by bilateral calcium deposition in the basal ganglia, dentate nuclei of cerebellum, and subcortical white matter. We can also distinguish Farh syndrome when its etiology is associated with the disorder of calcium metabolism, mitochondriopathies, cerebrum neoplasms, infections, inflammatory diseases of the nervous system, and injuries. The most common manifestations in patients with calcification of the basal ganglia of cerebrum are neurological and/or psychiatric disorders of varying severity. The clinical manifestation of the disease can occur at different ages, but mainly in young and middle-aged adults. However, some patients remain asymptomatic throughout their lives. The main clinical manifestations of the disease are extrapyramidal and movement disorders, emotional and cognitive impairments. At the same time, the correspondence of the form and severity of neurological conditions and the nature of calcification of the basal ganglia is rare. Currently, the treatment strategy for Fahr disease is based on symptomatic therapy and correction of etiological factors in Fahr syndrome. There is information about the reversibility of the calcification process and the complete restoration of mental functions in the early diagnosis and treatment of Fahr syndrome.

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33

Elsnicova, Barbara, Daniela Hornikova, Veronika Tibenska, David Kolar, Tereza Tlapakova, Benjamin Schmid, Markus Mallek, et al. "Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis." International Journal of Molecular Sciences 23, no. 19 (October 10, 2022): 12020. http://dx.doi.org/10.3390/ijms231912020.

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Desmin mutations cause familial and sporadic cardiomyopathies. In addition to perturbing the contractile apparatus, both desmin deficiency and mutated desmin negatively impact mitochondria. Impaired myocardial metabolism secondary to mitochondrial defects could conceivably exacerbate cardiac contractile dysfunction. We performed metabolic myocardial phenotyping in left ventricular cardiac muscle tissue in desmin knock-out mice. Our analyses revealed decreased mitochondrial number, ultrastructural mitochondrial defects, and impaired mitochondria-related metabolic pathways including fatty acid transport, activation, and catabolism. Glucose transporter 1 and hexokinase-1 expression and hexokinase activity were increased. While mitochondrial creatine kinase expression was reduced, fetal creatine kinase expression was increased. Proteomic analysis revealed reduced expression of proteins involved in electron transport mainly of complexes I and II, oxidative phosphorylation, citrate cycle, beta-oxidation including auxiliary pathways, amino acid catabolism, and redox reactions and oxidative stress. Thus, desmin deficiency elicits a secondary cardiac mitochondriopathy with severely impaired oxidative phosphorylation and fatty and amino acid metabolism. Increased glucose utilization and fetal creatine kinase upregulation likely portray attempts to maintain myocardial energy supply. It may be prudent to avoid medications worsening mitochondrial function and other metabolic stressors. Therapeutic interventions for mitochondriopathies might also improve the metabolic condition in desmin deficient hearts.

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Averina, Olga A., Ivan G. Laptev, Mariia A. Emelianova, Oleg A. Permyakov, Sofia S. Mariasina, Alyona I. Nikiforova, Vasily N. Manskikh, et al. "Mitochondrial rRNA Methylation by Mettl15 Contributes to the Exercise and Learning Capability in Mice." International Journal of Molecular Sciences 23, no. 11 (May 27, 2022): 6056. http://dx.doi.org/10.3390/ijms23116056.

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Mitochondrial translation is a unique relic of the symbiotic origin of the organelle. Alterations of its components cause a number of severe human diseases. Hereby we report a study of mice devoid of Mettl15 mitochondrial 12S rRNA methyltransferase, responsible for the formation of m4C839 residue (human numbering). Homozygous Mettl15−/− mice appeared to be viable in contrast to other mitochondrial rRNA methyltransferase knockouts reported earlier. The phenotype of Mettl15−/− mice is much milder than that of other mutants of mitochondrial translation apparatus. In agreement with the results obtained earlier for cell cultures with an inactivated Mettl15 gene, we observed accumulation of the RbfA factor, normally associated with the precursor of the 28S subunit, in the 55S mitochondrial ribosome fraction of knockout mice. A lack of Mettl15 leads to a lower blood glucose level after physical exercise relative to that of the wild-type mice. Mettl15−/− mice demonstrated suboptimal muscle performance and lower levels of Cox3 protein synthesized by mitoribosomes in the oxidative soleus muscles. Additionally, we detected decreased learning capabilities in the Mettl15−/− knockout mice in the tests with both positive and negative reinforcement. Such properties make Mettl15−/− knockout mice a suitable model for mild mitochondriopathies.

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35

Rafai, Mohammed Abdoh, Habtany Younes, Jardel Claude, Slassi Ilham, Dehbi Hind, and Bouche Pierre. "Le « SMANDOP » un nouveau phénotype des mitochondriopathies liées aux mutations POLG1 ou un simple profil évolutif du classique syndrome SANDO ?" Revue Neurologique 175 (April 2019): S127. http://dx.doi.org/10.1016/j.neurol.2019.01.334.

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36

Novosel, Dinko, Vladimir Brajković, Mojca Simčič, Minja Zorc, Tanja Svara, Karmen Branovic Cakanic, Andreja Jungić, et al. "The Consequences of Mitochondrial T10432C Mutation in Cika Cattle: A “Potential” Model for Leber’s Hereditary Optic Neuropathy." International Journal of Molecular Sciences 23, no. 11 (June 6, 2022): 6335. http://dx.doi.org/10.3390/ijms23116335.

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While mitogenome mutations leading to pathological manifestations are rare, more than 200 such mutations have been described in humans. In contrast, pathogenic mitogenome mutations are rare in domestic animals and have not been described at all in cattle. In the small local Slovenian cattle breed Cika, we identified (next-generation sequencing) two cows with the T10432C mitogenome mutation in the ND4L gene, which corresponds to the human T10663C mutation known to cause Leber’s hereditary optic neuropathy (LHON). Pedigree analysis revealed that the cows in which the mutation was identified belong to two different maternal lineages with 217 individual cows born between 1997 and 2020. The identified mutation and its maternal inheritance were confirmed by Sanger sequencing across multiple generations, whereas no single analysis revealed evidence of heteroplasmy. A closer clinical examination of one cow with the T10432C mutation revealed exophthalmos, whereas histopathological examination revealed retinal ablations, subretinal oedema, and haemorrhage. The results of these analyses confirm the presence of mitochondrial mutation T10432C with homoplasmic maternal inheritance as well as clinical and histopathological signs similar to LHON in humans. Live animals with the mutation could be used as a suitable animal model that can improve our understanding of the pathogenesis of LHON and other mitochondriopathies.

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Golubnitschaja, Olga, Peter Kubatka, Alena Mazurakova, Marek Samec, Abdullah Alajati, Frank A. Giordano, Vincenzo Costigliola, Jörg Ellinger, and Manuel Ritter. "Systemic Effects Reflected in Specific Biomarker Patterns Are Instrumental for the Paradigm Change in Prostate Cancer Management: A Strategic Paper." Cancers 14, no. 3 (January 28, 2022): 675. http://dx.doi.org/10.3390/cancers14030675.

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Prostate cancer (PCa) is reported as the most common malignancy and second leading cause of death in America. In Europe, PCa is considered the leading type of tumour in 28 European countries. The costs of treating PCa are currently increasing more rapidly than those of any other cancer. Corresponding economic burden is enormous, due to an overtreatment of slowly developing disease on one hand and underestimation/therapy resistance of particularly aggressive PCa subtypes on the other hand. The incidence of metastatic PCa is rapidly increasing that is particularly characteristic for young adults. PCa is a systemic multi-factorial disease resulting from an imbalanced interplay between risks and protective factors. Sub-optimal behavioural patterns, abnormal stress reactions, imbalanced antioxidant defence, systemic ischemia and inflammation, mitochondriopathies, aberrant metabolic pathways, gene methylation and damage to DNA, amongst others, are synergistically involved in pathomechanisms of PCa development and progression. To this end, PCa-relevant systemic effects are reflected in liquid biopsies such as blood patterns which are instrumental for predictive diagnostics, targeted prevention and personalisation of medical services (PPPM/3P medicine) as a new paradigm in the overall PCa management. This strategic review article highlights systemic effects in prostate cancer development and progression, demonstrates evident challenges in PCa management and provides expert recommendations in the framework of 3P medicine.

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Eichwald, Tuany, Lucila de Bortoli da da Silva, Ananda Christina Staats Staats Pires, Laís Niero, Erick Schnorrenberger, Clovis Colpani Filho, Gisele Espíndola, et al. "Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor." Antioxidants 12, no. 5 (May 3, 2023): 1037. http://dx.doi.org/10.3390/antiox12051037.

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Tetrahydrobiopterin (BH4) is an endogenous cofactor for some enzymatic conversions of essential biomolecules, including nitric oxide, and monoamine neurotransmitters, and for the metabolism of phenylalanine and lipid esters. Over the last decade, BH4 metabolism has emerged as a promising metabolic target for negatively modulating toxic pathways that may result in cell death. Strong preclinical evidence has shown that BH4 metabolism has multiple biological roles beyond its traditional cofactor activity. We have shown that BH4 supports essential pathways, e.g., to generate energy, to enhance the antioxidant resistance of cells against stressful conditions, and to protect from sustained inflammation, among others. Therefore, BH4 should not be understood solely as an enzyme cofactor, but should instead be depicted as a cytoprotective pathway that is finely regulated by the interaction of three different metabolic pathways, thus assuring specific intracellular concentrations. Here, we bring state-of-the-art information about the dependency of mitochondrial activity upon the availability of BH4, as well as the cytoprotective pathways that are enhanced after BH4 exposure. We also bring evidence about the potential use of BH4 as a new pharmacological option for diseases in which mitochondrial disfunction has been implicated, including chronic metabolic disorders, neurodegenerative diseases, and primary mitochondriopathies.

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Salvan, Anne-Marie, Jean Vion-Dury, Sylviane Confort-Gouny, Iban Sangla, Jean Pouget, and Patrick J. Cozzone. "Brain Metabolic Profiles Obtained by Proton MRS in Two Forms of Mitochondriopathies: Leber’s Hereditary Optic Neuropathy and Chronic Progressive External Ophthalmoplegia." European Neurology 40, no. 1 (1998): 46–49. http://dx.doi.org/10.1159/000007955.

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Suzuki, Yoshihiko, Motoaki Sano, Junichihro Irie, Toshihide Kawai, Shu Meguro, and Nobuhiro Ikemura. "A case of mitochondrial diabetes associated with 3243 bp tRNA Leu (UUR) mutation, who suffered from the rapid appearance of “mitochondriopathies”." Diabetes Research and Clinical Practice 120 (October 2016): S81. http://dx.doi.org/10.1016/s0168-8227(16)31108-1.

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Finsterer, J. "Mitochondriopathien." Aktuelle Neurologie 24, no. 06 (December 1997): 231–41. http://dx.doi.org/10.1055/s-2007-1017815.

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Roesti, Andreas. "MITOCHONDRIOPATHIEN." Akupunktur & Aurikulomedizin 42, no. 2 (June 2016): 24–29. http://dx.doi.org/10.1007/s15009-016-5392-x.

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Sperl, W., H. Prokisch, D. Karall, J. A. Mayr, and P. Freisinger. "Mitochondriopathien." Monatsschrift Kinderheilkunde 159, no. 9 (August 31, 2011): 848–54. http://dx.doi.org/10.1007/s00112-011-2447-x.

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Feldhaus, Simon. "Mitochondriopathie." Erfahrungsheilkunde 73, no. 02 (April 2024): 56–61. http://dx.doi.org/10.1055/a-2264-5078.

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ZusammenfassungDie Mitochondrienmedizin zeigt als eine junge und sehr beachtenswerte Medizinrichtung Wege auf, um die Zukunft des therapeutischen Handelns in vielfacher Hinsicht zu bereichern und zu verbessern. Mitochondriale Funktionsstörungen sollten als erhebliches Problem für die Entstehung und den Verlauf einer Reihe chronischer gesundheitlicher Störungen angesehen werden: postinfektiöse oder idiopathische Fatigue-Syndrome (chronisches Fatigue-Syndrom, Fibromyalgie-Syndrom, Multiple Chemical Sensitivity, Tumorfatigue etc.). Durch moderne integrative Diagnostik und daraus abgeleiteter Therapie ergeben sich neue Behandlungsoptionen für bisher schwer behandelbare Krankheiten und somit bessere Aussichten für betroffene Patienten. Dieser wissenschaftliche Artikel bietet eine umfassende Analyse der Mitochondriopathie, einschließlich ihrer Ursachen, Pathophysiologie und der diagnostischen Ansätze.

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Schmidt, Robert. "Mitochondriopathie." Erfahrungsheilkunde 73, no. 02 (April 2024): 53. http://dx.doi.org/10.1055/a-2252-6231.

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Fingerhut, R., W. Schmitz, B. Garavaglia, H. Reichmann, and E. Conzelmann. "Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid ?-oxidation." Journal of Inherited Metabolic Disease 17, no. 5 (1994): 527–32. http://dx.doi.org/10.1007/bf00711585.

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Ost, Bernhard. "Multifunktionsstörungen durch Mitochondriopathien." gynäkologie + geburtshilfe 25, no. 6 (December 2020): 58–59. http://dx.doi.org/10.1007/s15013-020-3154-2.

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Eugorisse, Alfred. "Mitochondriopathie und Anorexie." psychopraxis. neuropraxis 18, no. 5 (August 11, 2015): 168–71. http://dx.doi.org/10.1007/s00739-015-0277-7.

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Mörkl, Sabrina, Adelina Tmava, Claudia Blesl, Franziska Schmiedhofer, Walter E. Wurm, Anna Holl, and Annamaria Painold. "Die Kraftwerke der Zellen- über die Behandlung von psychiatrischen Symptomen bei Patienten mit Mitochondriopathien." Fortschritte der Neurologie · Psychiatrie 85, no. 08 (August 2017): 474–78. http://dx.doi.org/10.1055/s-0043-113824.

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Zusammenfassung Einleitung Mitochondriopathien sind Erkrankungen der Zellorganellen, welche für die Herstellung des Energieträgers Adenosin-Tri-Phosphat (ATP) essentiell sind. Bei Mutationen entsteht eine mannigfaltige Symptomatik besonders jener Organe, welche auf eine stetige Energieversorgung angewiesen sind- wie zum Beispiel das Nervensystem. Obwohl psychiatrische Symptome bei Mitochondriopathien häufig sind, finden diese im klinischen Alltag kaum Beachtung. Kasuistik Wir berichten über eine 21-jährige Patientin, welche aufgrund von Panikattacken und Depressionen unsere Akutambulanz aufsuchte. Die Patientin entwickelte im Vorfeld ausgeprägte Nebenwirkungen auf eine niedrigdosierte Sertralin-Therapie. Schlussfolgerung Mitochondriopathien sind selten, bedürfen jedoch unbedingt einer Anpassung der psychopharmakologischen Therapie. Viele Psychopharmaka können die Atmungskette beeinträchtigen und so zur Entstehung von ausgeprägten Nebenwirkungen führen.

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Mende, S., A. Storch, and H. Reichmann. "Genexpressionsstudien bei klassischen Mitochondriopathien." Der Nervenarzt 78, no. 10 (April 26, 2007): 1155–59. http://dx.doi.org/10.1007/s00115-007-2266-4.

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