title: The mitochondrial DNA A3243G mutation in Werner's syndrome.
abstract: OBJECTIVE
  The contribution of the A3243G mutation in mitochondria DNA (mtDNA) to diabetes mellitus (DM) in Werner's syndrome (WS) was studied.
  
  
  METHODS
  DNA samples from peripheral white blood cells (WBCs) originating from 24 Japanese WS patients aged 30-56 were used. For control, 239 subjects aged 15-95 were also used. The mtDNA was amplified using specific primers. After HaeIII digestion, the ratio of the A3243G mutation was compared.
  
  
  RESULTS
  The ratio of the A3243G mutation is 0.45+/-0.13% in WS, which is statistically insignificant from those in the control groups at various age. The mutation types of WRN in genomic DNA did not affect the ratio of the A3243G mtDNA mutation. No significant difference was observed concerning to the ratios among the WS patients with and without DM, and also controls. Furthermore, no significant difference was observed in the ratios of A3243G mutation among controls from various age groups.
  
  
  CONCLUSIONS
  The A3243G mutation in mtDNA does not accumulated in WBCs from WS. Mitochondria A3243G mutation may not contribute to the pathogenesis of DM observed in WS.
authors.affiliation: Department of Internal Medicine (Allergy and Rheumatology), Faculty of Medicine, University of Tokyo, Hongo 7-3-1, Bunkyo-ku, Tokyo 113-0033, Japan. fujio-tky@umin.ac.jp
authors.forename: Fujio
authors.initials: F
authors.lastname: Takeuchi
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.forename: Kenichi
authors.initials: K
authors.lastname: Nakamura
authors.forename: Kaiyo
authors.initials: K
authors.lastname: Takubo
authors.forename: Masao
authors.initials: M
authors.lastname: Kanamori
authors.forename: Makoto
authors.initials: M
authors.lastname: Goto
mesh_terms: D000328:Adult; D000368:Aged; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006801:Humans; D007962:Leukocytes; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D014898:Werner Syndrome / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial