title: Analysis of mitochondrial DNA variations in a Chinese family with spinocerebellar ataxia.
abstract: Mitochondrial dysfunction and mitochondrial DNA (mtDNA) variations have been shown to have a role in several neurological diseases. To determine whether there is an association between mtDNA variations and spinocerebellar ataxia (SCA), we analyzed the mtDNA main control region (D-loop), as well as mtDNA content and the prevalence of the common deletion, in blood samples from members of a large Chinese family (14 individuals with SCA and 13 healthy individuals). All 14 individuals with SCA were genotyped as SCA3. Thirteen mtDNA haplotypes were identified among the 27 subjects. We detected no mutations in the mtDNA D-loop region and found no significant differences in mtDNA copy number or common deletion level between patients and their healthy relatives. Contrary to some previous reports, our study showed that mtDNA variations seem to be a rare event in individuals with SCA3.
authors.affiliation: Wenling Hospital of Wenzhou Medical College, Wenling, Zhejiang, China.
authors.forename: Aiping
authors.initials: A
authors.lastname: Zeng
authors.forename: Xinwei
authors.initials: X
authors.lastname: Liu
authors.forename: Lijun
authors.initials: L
authors.lastname: Shen
authors.forename: Weizhen
authors.initials: W
authors.lastname: Li
authors.forename: Zhongying
authors.initials: Z
authors.lastname: Ding
authors.forename: Yidong
authors.initials: Y
authors.lastname: Bai
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D017827:Machado-Joseph Disease / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged
chemical_list: D004272:DNA, Mitochondrial