title: Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis.
abstract: OBJECTIVE
  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.
  
  
  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).
  
  
  CONCLUSIONS
  Taken together our data supports a strongly positive association between mitochondrial complex I gene variations and MS pathogenesis in a Filipino population.
authors.affiliation: Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Poursadegh Zonouzi
authors.affiliation: Young Researchers and Elite Club, Ahar Branch, Islamic Azad University, Ahar, Iran.
authors.forename: Saeid
authors.initials: S
authors.lastname: Ghorbian
authors.affiliation: Department of Molecular Genetics, Faculty of Basic Sciences, Tarbiat Modarres University, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Abkar
authors.affiliation: Department of Genetics and Medical Biotechnology, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Poursadegh Zonouzi
authors.affiliation: De La Salle Health Science Institute, College of Medicine, Cavite, Philippines. Electronic address: Aliazadi62@gmail.com.
authors.forename: Ali
authors.initials: A
authors.lastname: Azadi
mesh_terms: D000328:Adult; D016009:Chi-Square Distribution; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D010679:Philippines; D012307:Risk Factors
chemical_list: D042967:Electron Transport Complex I
keywords: Complex I genes; Mitochondrial DNA variations; Multiple sclerosis; mtDNA