1998 Fiscal Year Final Research Report Summary

Genetic analysis of hypertrophic cardiomyopathy

Research Project

Project/Area Number	09670772
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Single-year Grants
Section	一般
Research Field	Circulatory organs internal medicine
Research Institution	Kurume University
Principal Investigator	NISHI Hirofumi Kurume University, Lecturer, 医学部, 講師 (60189248)
Co-Investigator(Kenkyū-buntansha)	NAKATA Masashi Kurume University, Lecturer, 医学部, 講師 (70180304)
Project Period (FY)	1997 – 1998
Keywords	Hypertrophic cardiomyopathy / Cardiac beta myosin heavy chain gene / Genetics / Cardiac troponin I gene / Cardiac troponin T gene / Ca sensitivity
Research Abstract	Hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in the young, is an autosomal dominant disease characterized by ventricular hypertrophy accompanied by myofibrillar disarrays. Linkage studies and candidate-gene approaches have demonstrated that about half of the patients have mutations in one of six disease genes : cardiac beta-myosin heavy chain, cardiac troponin T, alpha-tropomyosin, cardiac myosin binding protein C, ventricular myosin essential light chain and ventricular myosinregulatory light chain genes. Because all the known genes encod major contravtile elements in cardiac muscle, we have systematically characterized the cardiac sarcomere genes, including cardiac troponin I, cardiac actin and cardiac troponin C in patients with HCM and found mutations in the cardiac troponin I gene in several patients. Family studies showed that an Argl45Gly mutation was linked to HCM, thus strongly suggesting that cardiac troponin I is the seventh HCM gene.