title: Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients.
abstract: We studied 14 patients with Leber's hereditary optic neuropathy (LHON) to investigate the mtDNA haplotypes associated with the primary mutation(s). Eleven patients carried the mitochondrial DNA (mtDNA) G11778A mutation, while one had the T14484C mutation; one patient had the G3460A mutation and one the G14459A mutation. The Iranian G11778A LHON mutation was not associated with two mtDNA haplogroups-M (0.0% compared with 3.2% in healthy controls) and J (7.7% compared with 10% in healthy controls). Our results showed a similarity in the pattern of LHON primary point mutations between Iranian families with LHON and those of Russian, European, and North American origin. Our results also do not support an association between mtDNA haplogroups J and M with LHON primary point mutations.
authors.affiliation: National Research Center for Genetic Engineering and Biotechnology, Tehran, Iran. massoudh@nrcgeb.ac.ir
authors.forename: M
authors.initials: M
authors.lastname: Houshmand
authors.forename: F
authors.initials: F
authors.lastname: Sharifpanah
authors.forename: A
authors.initials: A
authors.lastname: Tabasi
authors.forename: M-H
authors.initials: MH
authors.lastname: Sanati
authors.forename: M
authors.initials: M
authors.lastname: Vakilian
authors.forename: S H
authors.initials: SH
authors.lastname: Lavasani
authors.forename: S
authors.initials: S
authors.lastname: Joughehdoust
mesh_terms: D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005060:Europe; D005260:Female; D006239:Haplotypes; D006801:Humans; D007492:Iran; D008297:Male; D009656:North America; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D012426:Russia
chemical_list: D004272:DNA, Mitochondrial