Delineating MT-ATP6 -associated disease [PDF]
Neurology Genetics, 2020 Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort.Methods We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China.Results We identified 113 ...
Stendel, Claudia +22 more
core +12 more sources
Expanding the clinical phenotypes of MT-ATP6 mutations [PDF]
Human Molecular Genetics, 2014 Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not ...
López-Gallardo, Ester +12 more
openaire +6 more sources
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations [PDF]
Neurology Genetics, 2020 To describe the clinical and functional consequences of 1 novel and 1 previously reported truncating MT-ATP6 mutation.Three unrelated probands with mitochondrial encephalomyopathy harboring truncating MT-ATP6 mutations are reported. Transmitochondrial cybrid cell studies were used to confirm pathogenicity of 1 novel variant, and the effects of all 3 ...
Enrico Bugiardini +19 more
openaire +7 more sources
Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome
Acta Neurologica Scandinavica, 2021 Mitochondrial DNA (mtDNA)-associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants, variants of the MT-ATP6 gene account for most of reported cases.
Ji‐Hoon Na, Young‐Mock Lee
openaire +4 more sources
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
Mitochondrion, 2020 To address the frequency of complex V defects, we systematically sequenced MT-ATP6/8 genes in 512 consecutive patients. We performed functional analysis in muscle or fibroblasts for 12 out of 27 putative homoplasmic mutations and in cybrids for four. Fibroblasts, muscle and cybrids with known deleterious mutations underwent parallel analysis.
Rucheton, Benoit +9 more
openaire +4 more sources
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study [PDF]
Annals of Neurology, 2019 Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa.
Ng, Yi Shiau +27 more
core +10 more sources
Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review [PDF]
中国当代儿科杂志This report describes the potential diagnostic value of decreased plasma citrulline (pCit) levels for the early recognition of MT-ATP6-related mitochondrial disease. Two cases were reported, and relevant literature was reviewed. Case 1: Onset occurred at
YAN Hui-Ming +6 more
doaj +2 more sources
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
Journal of the Formosan Medical Association, 2022 Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders.
Tzu-Hsuan Su +4 more
doaj +3 more sources
Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells [PDF]
Mitochondrion, 2016 Since the discovery of somatic mtDNA mutations in tumor cells, multiple studies have focused on establishing a causal relationship between those changes and alterations in energy metabolism, a hallmark of cancer cells. Yet the consequences of these mutations on mitochondrial function remain largely unknown.
Katarzyna, Niedzwiecka +7 more
openaire +4 more sources
Modes of metabolic compensation during mitochondrial disease using the Drosophila model of ATP6 dysfunction. [PDF]
PLoS ONE, 2011 Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment.
Alicia M Celotto +3 more
doaj +2 more sources