ABSTRACT
BACKGROUND: Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system (CNS) which is chronically observed in young adults. On the basis of earlier studies, potential relatedness between MS and mitochondrial DNA (mtDNA) mutations was postulated. MATERIALS AND METHODS: 246 individuals were screened using the PCR-RFLP method, including 70 MS patients examined for mitochondrial haplogroups BM, J, K and M and 176, 149 and 70 normal controls examined for haplogroups BM and M, J and K, respectively. RESULTS AND DISCUSSION: Our analysis revealed a relatively high proportion of haplogroup BM in MS patients (approximately 26%) compared to normal controls ( approximately 13%). In addition, a slightly significant increase of MS patients of haplogroup J (20% in MS patients versus 9.39% in normal controls at P =0.049), while haplogroups M and K did not show contribution to MS contingency (2.85 and 2.27%, respectively at P = 1.000 in haplogroup M and 12.85 and 7.14% respectively at P =0.399 in haplogroup K).
Subject(s)
DNA, Mitochondrial/genetics , Genetic Testing , Multiple Sclerosis/ethnology , Multiple Sclerosis/genetics , Adult , Female , Genetic Predisposition to Disease/epidemiology , Haplotypes , Humans , Iran/epidemiology , Male , Optic Nerve Diseases/ethnology , Optic Nerve Diseases/genetics , Point Mutation , Risk FactorsABSTRACT
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.
