Expression of proto-oncogenes and gene mutation of sarcomeric proteins in patients with hypertrophic cardiomyopathy

Circ Res. 1998 Sep 21;83(6):594-601. doi: 10.1161/01.res.83.6.594.

Abstract

Several mutations of cardiac beta-myosin heavy chain (beta-MHC) gene were reported in patients with hypertrophic cardiomyopathy (HCM). Involvement of proto-oncogenes has been shown in the mechanism of experimental cardiac hypertrophy. This study sought to examine the effects of c-H-ras and c-myc expression in the steady-state myocardium on hypertrophic changes and to evaluate the possible interaction between beta-MHC mutation and proto-oncogene expression in HCM. Endomyocardial biopsy was performed in 17 HCM patients (5 beta-MHC mutations and 1 troponin T mutation) and 7 control subjects (no mutation). Reverse transcription-polymerase chain reaction analysis revealed c-H-ras expression in all members of both groups. Cardiomyocyte size was correlated with the expression level of c-H-ras (P<0.001), and c-H-ras expression was upregulated in HCM patients (P<0.01). HCM patients with a beta-MHC mutation had the higher c-H-ras expression than did control subjects or patients without a mutation (P<0.01). c-myc mRNA was expressed in 7 of 17 HCM patients but not in control subjects. Myocyte size was greater in c-myc-positive HCM patients than in control subjects and c-myc-negative HCM patients (P<0.001 and P<0.05, respectively). The proto-oncogene expression did not affect clinical findings, myocardial fibrosis, or disarray. In conclusion, c-H-ras and c-myc expression in the steady-state myocardium may play a role in the hypertrophic mechanism in HCM. It is possible that ss-MHC gene mutation has some effect on the regulation of proto-oncogene expression in HCM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biopsy
  • Cardiomyopathy, Hypertrophic / genetics*
  • Female
  • Gene Expression
  • Genes, MHC Class II / genetics
  • Genes, ras / genetics
  • Humans
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Mutation
  • Myocardium / metabolism
  • Myocardium / pathology
  • Polymerase Chain Reaction
  • Proto-Oncogene Mas
  • Proto-Oncogenes / genetics*
  • RNA, Messenger / genetics
  • RNA-Directed DNA Polymerase
  • Sarcomeres / chemistry

Substances

  • MAS1 protein, human
  • Muscle Proteins
  • Proto-Oncogene Mas
  • RNA, Messenger
  • RNA-Directed DNA Polymerase