title: Leber's hereditary optic neuropathy mutations in Korean patients with multiple sclerosis.
abstract: Several different mitochondrial DNA (mtDNA) sites for mutations of Leber's hereditary optic neuropathy (LHON) have been reported to be present in patients with multiple sclerosis (MS). To further study this association of LHON and MS in the Korean population, we tested 20 MS patients for the presence of mtDNA mutations at nucleotide (nt) 11778 in all 20 patients, and at nt 14484, nt 3460 and nt 15257 in 15, 12 and 12 patients, respectively. However, none of the MS patients exhibited any pathogenic LHON mtDNA mutations. In conclusion, we found no evidence for any association between MS and the LHON mutation in the Korean population.
authors.affiliation: Department of Ophthalmology, Seoul Municipal Boramae Hospital, Seoul National University College of Medicine, Seoul, Korea. hjm@snu.ac.kr
authors.forename: J M
authors.initials: JM
authors.lastname: Hwang
authors.forename: B L
authors.initials: BL
authors.lastname: Chang
authors.forename: S S
authors.initials: SS
authors.lastname: Park
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial