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Leber's Hereditary Optic Neuropathy: The Spectrum of Mitochondrial DNA Mutations in Iranian Patients
Author(s) -
HOUSHMAND M,
SHARIFPANAH F,
TABASI A,
SANATI MH,
VAKILIAN M,
LAVASANI SH,
JOUGHEHDOUST S
Publication year - 2004
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1293.035
Subject(s) - haplogroup , leber's hereditary optic neuropathy , mitochondrial dna , point mutation , haplotype , human mitochondrial dna haplogroup , optic neuropathy , mutation , genetics , biology , medicine , genotype , gene , ophthalmology , optic nerve
A bstract : 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.