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- Title
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
- Authors
Negishi, Yutaka; Hattori, Ayako; Takeshita, Eri; Sakai, Chika; Ando, Naoki; Ito, Tetsuya; Goto, Yu-ichi; Saitoh, Shinji
- Abstract
Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene. The siblings' phenotypically normal mother had the same, albeit heteroplasmic, mutation. Complex I deficiency (8% of average control values) was demonstrated in a biceps brachii muscle from one of the patients. Heteroplasmic m.3697G>A has been reported in patients with Leber's hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes and Stüve-Wiedemann syndrome. Because all three patients in this series carried m.3697G>A in a homoplasmic manner and had LS, we suggest that homoplasmy of m.3697G>A may cause the LS phenotype.
- Subjects
LEIGH disease; MITOCHONDRIAL pathology; BRAIN diseases; GENETIC mutation; NEUROPATHY; LACTIC acidosis; PHENOTYPES; GENETICS
- Publication
Journal of Human Genetics, 2014, Vol 59, Issue 7, p405
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1038/jhg.2014.41