title: UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor.
abstract: In the actual scenario of the search for further genetic susceptibility factors, a recent paper noted an SNP in the UCP2 gene as a multiple sclerosis (MS) risk factor. UCP2 is a member of the mitochondrial proton transport family, which uncouples proton entry in the mitochondrial matrix from ATP synthesis. mtDNA haplogroups are also associated with ATP production, and are linked with mitochondrial proton transport. In this work, we studied the UCP2 SNP and the mitochondrial haplogroups distribution in a Spanish MS population, with a population sub-group of Basque-origin patients. Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups.
authors.affiliation: Unidad Experimental, Hospital Donostia, Spain. dotaegui@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Otaegui
authors.forename: A
authors.initials: A
authors.lastname: Saenz
authors.forename: J
authors.initials: J
authors.lastname: Ruiz-Martinez
authors.forename: J
authors.initials: J
authors.lastname: Olaskoaga
authors.forename: A
authors.initials: A
authors.lastname: López de Munain
mesh_terms: D000328:Adult; D017668:Age of Onset; D005006:Ethnicity / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology; D000071246:Uncoupling Protein 2
chemical_list: D007473:Ion Channels; D024101:Mitochondrial Proteins; C000604389:UCP2 protein, human; D000071246:Uncoupling Protein 2