Mitochondrial complex i gene variations; As a potential genetic risk factor in pathogenesis of multiple sclerosis

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Journal of the Neurological Sciences


© 2014 Elsevier B.V. Background and purpose:Multiple sclerosis (MS) is an autoimmune-mediated inflammatory and debilitating disease of the central nervous system. Several investigations have suggested that the mitochondrial DNA encoded subunits of complex I gene variations are involved in the progression of MS. In this study, we investigated the possible association between mitochondrial complex I gene variations and MS in a Filipino population. Material and methods: A total of 300 individuals were included in the present study, two-hundred patients with MSclinical symptoms, and one-hundred healthy subjectswithoutMS clinical features.Weamplified target genes of mtDNA using polymerase chain reaction technique (PCR), and sequenced these to evaluate mitochondrial complex I gene variations. Results:We found nine variations (Nt 4216 T N C, Nt 5153 A N G, Nt 10142 C N T, Nt 11353 T N C, Nt 11935 T N C, Nt 12062 C N T, Nt 13042 G N A, Nt 13708 G N A and Nt 14179 G N A) in mtDNA-encoded complex I subunit genes. Our results showed that the prevalence of ND1, ND2, ND3, ND4 and ND5 gene variationswas significantly higher in patients than in healthy controls (P b 0.0001).Whereas, the frequency of Nt 14179 G N A variation inND6 gene was significantly higher in the control group compared with the patients (P b 0.0001). Conclusion: Taken together our data supports a strongly positive association between mitochondrial complex I gene variations and MS pathogenesis in a Filipino population.

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