Cardiomyopathies and mitochondrial DNA mutations

Mol Cell Biochem. 1997 Nov;176(1-2):287-90.

Abstract

Our former studies concerning mitochondrial DNA mutations were reviewed in this article. A 7.4 kb deletion between the D-loop and ATPase 6 genes was detected in myocardial tissue obtained at autopsy from patients with myocardial infarction, diabetes mellitus and also patients treated with adriamycin. A case with diabetes mellitus and hypertrophic cardiomyopathy is demonstrated which revealed a point mutation from adenine to guanine at position 3243 within tRNA Leu(UUR).

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Cardiomyopathies / genetics*
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus / genetics*
  • Doxorubicin / therapeutic use
  • Echocardiography
  • Female
  • Gene Deletion
  • Humans
  • Insulin / genetics
  • Middle Aged
  • Mutation*
  • Myocardial Infarction / genetics*
  • Neoplasms / drug therapy
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • RNA, Transfer, Leu / genetics*
  • Ventricular Function

Substances

  • DNA, Mitochondrial
  • Insulin
  • RNA, Transfer, Leu
  • Doxorubicin
  • Adenosine Triphosphatases