| Project/Area Number |
09670772
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Kurume University |
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Principal Investigator |
NISHI Hirofumi Kurume University, Lecturer, 医学部, 講師 (60189248)
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| Co-Investigator(Kenkyū-buntansha) |
NAKATA Masashi Kurume University, Lecturer, 医学部, 講師 (70180304)
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| Project Period (FY) |
1997 – 1998
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| Project Status |
Completed (Fiscal Year 1998)
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| Budget Amount *help |
¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 1998: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1997: ¥1,900,000 (Direct Cost: ¥1,900,000)
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| Keywords | Hypertrophic cardiomyopathy / Cardiac beta myosin heavy chain gene / Genetics / Cardiac troponin I gene / Cardiac troponin T gene / Ca sensitivity |
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| 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.
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