Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

J Med Genet. 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654.


The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently involved deafness and recurrent attacks of migraine-like headaches, but the clinical course of the disease varied within and across generations. The A 3243 G mutation has been previously reported in association with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome (MELAS) and with diabetes mellitus and deafness. To our knowledge, however, hypertrophic cardiomyopathy is not a common feature in people with the A 3243 G mutation and renal failure has not been hitherto reported in association with this mutation. The present observation gives additional support to the variable clinical expression of mtDNA mutations in humans.

Publication types

  • Case Reports

MeSH terms

  • Adenine
  • Adult
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / genetics*
  • Deafness / complications
  • Deafness / genetics*
  • Diabetes Complications
  • Diabetes Mellitus / genetics*
  • Female
  • Guanine
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Point Mutation*
  • RNA, Transfer, Leu / genetics*
  • Renal Insufficiency / complications
  • Renal Insufficiency / genetics*


  • RNA, Transfer, Leu
  • Guanine
  • Adenine