title: Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene.
abstract: BACKGROUND
  A high prevalence of an A-to-G mutation at nucleotide 3243 of the mitochondrial genome in patients with diabetes mellitus (DM) and/or deafness has been reported previously. We investigated the prevalence of this mutation in Japanese dialysis patients with associated DM and/or deafness.
  
  
  METHODS
  We studied 106 dialysis patients with DM, 26 with DM and deafness, and 26 with deafness alone, using peripheral leucocytes to detect an A-to-G transition at nucleotide 3243 of the mitochondrial gene.
  
  
  RESULTS
  We identified this transition in 1 of 26 patients with DM and deafness. None of the 106 DM or 26 dialysis patients with deafness but no DM was positive for this mutation. A 42-year-old male patient on continuous ambulatory peritoneal dialysis (CAPD) who carried this mutation had a 20-year history of sensory hearing loss as well as hypertrophic cardiomyopathy.
  
  
  CONCLUSIONS
  We found that a mitochondrial gene mutation at nucleotide 3243 was present in one dialysis patient with NIDDM and deafness. The prevalence of this mutation was found to be below 1% in diabetic end-stage renal disease patients in Japan.
authors.affiliation: Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba and Terumo Corporation R&D Center, Tsukuba, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamagata
authors.forename: C
authors.initials: C
authors.lastname: Tomida
authors.forename: K
authors.initials: K
authors.lastname: Umeyama
authors.forename: K i
authors.initials: Ki
authors.lastname: Urakami
authors.forename: T
authors.initials: T
authors.lastname: Ishizu
authors.forename: K
authors.initials: K
authors.lastname: Hirayama
authors.forename: M
authors.initials: M
authors.lastname: Gotoh
authors.forename: T
authors.initials: T
authors.lastname: Iitsuka
authors.forename: K
authors.initials: K
authors.lastname: Takemura
authors.forename: H
authors.initials: H
authors.lastname: Kikuchi
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: A
authors.initials: A
authors.lastname: Koyama
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence / Q000235:genetics; D006332:Cardiomegaly / Q000150:complications / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics / Q000628:therapy; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D008929:Mitochondria, Heart / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D010531:Peritoneal Dialysis, Continuous Ambulatory; D012356:RNA, Transfer, Leu / Q000235:genetics; D006435:Renal Dialysis; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu