Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778
โ Scribed by M. Matsumoto; Seiji Hayasaka; Yoshihiro Hotta; Keiko Fujiki; Takuro Fujimaki; Misako Takeda; Nobuo Ishida; Shin-ichiro Endo; Atsushi Kanai
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 106 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1435-232X
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We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy (LHON), and have identified the mutation in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much
Leber's hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral (usually permanent) loss of central vision, caused by neuroretinal degeneration. The maternal inheritance is explained by the mitochondrial origin of the disease. Recently, a single mitochondrial DNA (mtDNA) m