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
کلید واژگان :
mitochondria; primary point mutation; Leber’s hereditary optic neuropathy; mutation and families
