Expression of Proto-oncogenes and Gene Mutation of Sarcomeric Proteins in Patients With Hypertrophic Cardiomyopathy

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Abstract
—Several mutations of cardiac β-myosin heavy chain (β-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 β-MHC mutation and proto-oncogene expression in HCM. Endomyocardial biopsy was performed in 17 HCM patients (5 β-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 (Pras expression was upregulated in HCM patients (Pras expression than did control subjects or patients without a mutation (Pmyc 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 (PPras and c-myc expression in the steady-state myocardium may play a role in the hypertrophic mechanism in HCM. It is possible that β-MHC gene mutation has some effect on the regulation of proto-oncogene expression in HCM.

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