HIGH-FREQUENCY OF MUTATIONS AT POSITION-11778 IN MITOCHONDRIAL ND4 GENE IN JAPANESE FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY

We have investigated the presence of a point mutation at position 1177 8 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Le ber's hereditary optic neuropathy (LHON), and have identified the muta tion in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much higher in Japanese patients with LHON than in pati ents of other ethnic origins, such as Finnish, Dutch, German, and Engl ish families.