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Repository of Research and Investigative Information

Hormozgan University of Medical Sciences

Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis

(2014) Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis. Journal of the neurological sciences.

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Official URL: https://www.ncbi.nlm.nih.gov/pubmed/?term=Mitochon...

Abstract

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 MS clinical symptoms, and one-hundred healthy subjects without MS clinical features. We amplified 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>C, Nt 5153 A>G, Nt 10142 C>T, Nt 11353 T>C, Nt 11935 T>C, Nt 12062 C>T, Nt 13042 G>A, Nt 13708 G>A and Nt 14179 G>A) in mtDNA-encoded complex I subunit genes. Our results showed that the prevalence of ND1, ND2, ND3, ND4 and ND5 gene variations was significantly higher in patients than in healthy controls (P<0.0001). Whereas, the frequency of Nt 14179 G>A variation in ND6 gene was significantly higher in the control group compared with the patients (P<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.

Item Type: Article
Keywords: Complex I genes,Mitochondrial DNA variations,Multiple sclerosis,mtDNA
Subjects: QU Biochemistry. Cell Biology and Genetics > QU 300-560 Cell Biology and Genetics
Depositing User: مهندس هدی فهیم پور
URI: http://eprints.hums.ac.ir/id/eprint/4894

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