title: Mitochondrial D-loop variation in Persian multiple sclerosis patients: K and A haplogroups as a risk factor!!
abstract: : Multiple Sclerosis (MS) is a multifocal demyelinating central nervous system disorder in which interplay between genes and the environment are supposed to be involved. Mitochondrial DNA (mtDNA) has the only non-coding regions at the displacement loop (D-loop) region that contains two hypervariable segments (HVS-I and HVS-II) with high polymorphism. mtDNA has already been fully sequenced and many subsequent publications have showed polymorphic sites, haplogroups and haplotypes. Haplogroups could have important implications to understand association between mutability of the mitochondrial genome and disease. To assess relationship between mtDNA haplogroups and MS, we have sequenced the mtDNA HVS-I in 54 MS patients and 100 control subjects. We have found that haplogroups A and K are significantly more abundant in MS patients (P=0.042 for haplogroup A and P=0.0005 for haplogroup K). Thus, these two haplogroups might act synergistically to increase the penetrance of MS disease.
authors.affiliation: Institute of Biochemistry and Biophysics, University of Tehran, Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Hassani-Kumleh
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Mehdi Shafa Shariat
authors.initials: MS
authors.lastname: Panahi
authors.forename: Gholam Hossein
authors.initials: GH
authors.lastname: Riazi
authors.forename: Mohammad Hossein
authors.initials: MH
authors.lastname: Sanati
authors.forename: Kurosh
authors.initials: K
authors.lastname: Gharagozli
authors.forename: Mojdeh
authors.initials: M
authors.lastname: Ghabaee
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D007492:Iran; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D009690:Nucleic Acid Conformation; D011110:Polymorphism, Genetic; D011897:Random Allocation; D012307:Risk Factors
chemical_list: D004272:DNA, Mitochondrial