the spectrum of mitochondrial dna mutations in iranian lebers hereditary optic neuropathy patients

we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. 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. the rest of the patients were sequenced all mtdna complex i subunits. new mutations were found in nd1 and nd4 which are under investigation for showing the pathogenicity of mutations.