title: Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran.
abstract: The hypothesis that mitochondrial genes may implicate susceptibility to multiple sclerosis (MS) is supported by an increasing number of case reports on Leber's hereditary optic neuropathy (LHON)-associated mitochondrial DNA (mtDNA) point mutations in patients with MS. A number of mtDNA mutations with primary pathogenic significance for LHON, a maternally inherited disease causing severe bilateral visual loss predominantly in young men, have been detected in patients with an MS-like phenotype. To evaluate the link between MS and LHON primary point mutations, we investigated 31 non-related Iranian clinically definite MS patients (23 females and 8 males) with optic nerve involvement, as well as 25 patients (16 females and 9 males) without involvement of the optic nerve as controls. Three patients had severe bilateral visual loss without any recovery. We searched for the presence of LHON mitochondrial mutations at nucleotide positions (np) 11,778, 3,460, and 14,484 by mutation-specific polymerase chain reaction and restriction fragment length polymorphism. Our results suggest that there is no association between Iranian patients with MS and mtDNA point mutations at np 11,778, 3,460, and 14,484.
authors.affiliation: National Research Center for Genetic Engineering and Biotechnology, Tehran University School of Medicine, Shariati Hospital, #19 Abbass Shafie Alley, Ghods St. Enghelab Avenue, PO Box 14155-6343, Tehran, Iran. massoudh@nrcgeb.ac.ir
authors.forename: M
authors.initials: M
authors.lastname: Houshmand
authors.forename: M-H
authors.initials: MH
authors.lastname: Sanati
authors.forename: I
authors.initials: I
authors.lastname: Rashedi
authors.forename: F
authors.initials: F
authors.lastname: Sharifpanah
authors.forename: E
authors.initials: E
authors.lastname: Asghari
authors.forename: J
authors.initials: J
authors.lastname: Lotfi
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000209:etiology / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D017354:Point Mutation; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D004272:DNA, Mitochondrial; D012333:RNA, Messenger