Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene

Nephrol Dial Transplant. 2000 Mar;15(3):385-8. doi: 10.1093/ndt/15.3.385.


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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence / genetics
  • Cardiomegaly / complications
  • Cardiomegaly / pathology
  • DNA, Mitochondrial / genetics
  • Deafness / complications
  • Deafness / genetics
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Gene Frequency
  • Humans
  • Japan
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / therapy
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Mitochondria / genetics
  • Mitochondria, Heart / ultrastructure
  • Mutation / genetics*
  • Myocardium / pathology
  • Peritoneal Dialysis, Continuous Ambulatory*
  • RNA, Transfer, Leu / genetics
  • Renal Dialysis*
  • Wolff-Parkinson-White Syndrome / complications
  • Wolff-Parkinson-White Syndrome / pathology


  • DNA, Mitochondrial
  • RNA, Transfer, Leu