Journal
NEUROGENETICS
Volume 10, Issue 4, Pages 337-345Publisher
SPRINGER
DOI: 10.1007/s10048-009-0194-0
Keywords
Oxidative phosphorylation disorders; Leber hereditary optic neuropathy and dystonia (LDYT); ND3; Mitochondrion; Gene chip
Categories
Funding
- National Natural Science Foundation of China [30270478]
- Ministry of Health of China
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Labour and Welfare, Japan
- Takeda Science Foundation
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Leber hereditary optic neuropathy and dystonia (LDYT) is a mitochondrial disorder associated with variable combinations of vision loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial ND6 or ND4 gene. In this paper, we describe a Chinese family with 18 LDYT patients. The comprehensive nucleotide sequence analysis of the entire mitochondrial genome using resequencing microarray revealed a mutation (mtND3*10197A (m.10197G > A)) substituting a threonine for a highly conserved alanine at codon 47 of MTND3 on the background of haplogroup D4b. Quantitative analysis of the heteroplasmy of the mutation revealed a homoplasmy in the leukocytes of all the affected individuals on the maternal side. This is the first description of the ND3 mutation causing LDYT. The mtND3*10197A (m.10197G > A) mutation has recently been described in French and Korean patients with Leigh syndrome. These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G > A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.
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