[6] ICHIKAWA K,TSUYUSAKI Y,SHIMBO H,et al.Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene[J].Pediatr Int,2019,61(10):1055-1056. [7] CAMPOS Y,MARTIN M A,RUBIO J C,et ...
patients with suspected Leigh syndrome should undergo genetic testing as soon as possible to confirm the diagnosis.【Key words】 ATP6 gene;Leigh syndrome;Gene mutation;Pedigree studyLeigh 综合征又称亚急性坏死性脑脊髓病,是由于线粒体氧化磷酸化缺陷导致的严重神经退行性疾病,是婴幼儿期和儿童期最常见的...
Numerous mutations in the MT-ATP6 gene have been identified that lead to defects in oxidative phosphorylation. Many of these are strongly associated with distinct disease states, including Leigh syndrome (2) and Charcot-Marie-Tooth (CMT) disease (3). Anderson, S. et al. (1981) Nature 290,...
The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. These cellular structures produce energy through a process called oxidative phospho...
Objective: To report a case of a patient with MT-ATP 6 gene mutation with NARP (neurogenic muscle weakness, ataxia and retinitis pigmentosa) - like diseaseBackground: NARP (neurogenic muscle weakness, ataxia and retinitis pigmentosa) as the name suggests is characterized by proximal muscle ...
Gene(s):MT-ATP6 Mutation(s): m.8993T>G, m.8993T>C, m.9185T>C Heteroplasmic Prevalence: Rare Neurogenic muscle weakness,ataxia, andretinitis pigmentosa(NARP) is caused by three mutations inMT-ATP6(m.8993T>C/G, m.9185T>C), all of which also causeMILS(see above). Generally spea...
MT-ATP6mtDNAMitochondrial 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-ATP6gene account for most of ...
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. J. Med. Genet. 2009, 46, 64-67.Lopez-Gallardo E, Solano A, Herrero-Martin MD, Martinez-Romero I, Castano-Perez MD, Andreu AL, Herrera A, Lopez-Perez MJ, Ruiz-Pesini E, ...
Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT-ATP6 was among the first described human mitochondrial DNA diseases. Due to a lack of clinically available functional assays, validating the definitive pathogenicity of additional MT-ATP6 variants remains ...
Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene. The atypical findings were Bilateral Basal Ganglia Calcification (BGC) and late survival age in the patient. Analyses of the Whole Mitochondrial Genome Sequencing (WMGS) results of...