Results 11 to 20 of about 162,948 (264)
Japanese Journal of Human Genetics, 1997 In this minireview, we attempt to survey the three main group of mitochondrial disorders, defects of nuclear DNA, defects of mitochondrial DNA, and defects of intergenomic signaling, with emphasis on recent contributions and pathogenetic mechanisms. In so doing, we have tried to point out some of the numerous unsolved problems in genotype/phenotype ...
S, DiMauro, K, Tanji
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Deutsches Ärzteblatt international, 2021 Mitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often missed because of their extreme phenotypic and genotypic heterogeneity.This review is based on publications retrieved by a selective literature search on the clinical features, genetics,
Klopstock, T. +5 more
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Annals of Translational Medicine, 2018 Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to ...
Shibani, Kanungo +5 more
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The Turkish Journal of Pediatrics, 2023 Background. Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial ...
Dejan Aleksic +4 more
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Glucocorticoids for mitochondrial disorders [PDF]
Singapore Medical Journal, 2015 Dear Sir, Although there is no causal treatment of mitochondrial disorders (MIDs) yet available,(1) treatment strategies to enhance respiratory chain (RC) functions, eliminate noxious compounds, shift the heteroplasmy rate, alter mitochondrial dynamics, transfer cytoplasm, or treat genes are increasingly applied.(1) One of the pharmacological ...
Josef, Finsterer, Marlies, Frank
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Frontiers in Neurology, 2023 BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits ...
Montaha Almudhry +19 more
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Parkinson's Disease, 2017 Objective. To determine potential mitochondrial and oxidative alterations in colon biopsies from idiopathic REM sleep behavior disorder (iRBD) and Parkinson’s disease (PD) subjects. Methods.
C. Morén +14 more
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Medicine, 1998 Mitochondrial respiration, the most efficient metabolic pathway devoted to energy production, is at the crosspoint of 2 quite different genetic systems, the nuclear genome and the mitochondrial genome (mitochondrial DNA, mtDNA). The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genetic ...
M, Zeviani, V, Tiranti, C, Piantadosi
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Malingering and factitious disorder (Münchausen-syndrome) can be mitochondrial
Indian Journal of Psychological Medicine, 2016 Malingering and factitious disorder (Münchausen-syndrome) has not been reported as a manifestation of a mitochondrial-disorder (MID). Here, we report a 46 years-old female with a MID due to a combined complex I-IV defect, manifesting in the cerebrum ...
Josef Finsterer, Lässer Stefan
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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
JIMD Reports, 2023 Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate ...
Parith Wongkittichote +6 more
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