[Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy].

OBJECTIVE: To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy (HCM). METHODS: Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. RESULTS: Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18.7mm; a Asp463stop mutation in exon17 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exon18 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutations occurred in 4.5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. CONCLUSION: MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.

[Application of transgenic animal in hypertrophic cardiomyopathy].

Hypertrophic cardiomyopathy is an autosomal-dominant disease. Disease-causing mutations have been found in genes encoding structural components of the thick and thin filament systems of cardiac myocyte; it has therefore been named as a disease of sarcomere. Many approaches have been used to characterize the pathogenesis of the disease. Transgenic animal models have been created to gain further insight into the pathogenesis of this disease. Most of these models has been made in mice; however, recently a transgenic rabbit model has been created. In addition, there are several natural-occurring forms of HCM in animals. The discovery of responsible genes and the elucidation of the molecular mechanisms of pathogenesis through the use of animal models promise improved and early diagnosis and the potential for mechanism-based therapeutics.