2000 Fiscal Year Final Research Report Summary
The Mutation and Paterns of Subtypes of Troponin-T in Familial Hypertrophic Cardiomyopathy.
| Project/Area Number |
11670783
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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 |
Pediatrics
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| Research Institution | International University of Health and Welfare |
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Principal Investigator |
ARAI Shoichi Assistant Professor, School of Health Science, International University of Health and Welfare, 保健学部, 助教授 (60257748)
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| Co-Investigator(Kenkyū-buntansha) |
MOMMA Kazuo Professor, Department of Pediatric Cardiology, Tokyo Women's Medical University, 医学部, 教授 (80075233)
IMAMURA Shin-ichiro Assistant, Department of Cardiovascular Science, Tokyo Women's Medical University, 医学部, 助手 (00176497)
MATSUOKA Rumiko Assistant, Department of Pediatric Cardiology, Tokyo Women's Medical University, 医学部, 助手 (50120051)
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| Project Period (FY) |
1999 – 2000
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| Keywords | hypertrophiccardiomyopathy / myocardial tropnin-T gene / cardiac β myosin heavy chain gene / gene mutation |
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| Research Abstract |
The hypertrophic cardiomyopathy (HCM) is a myocardial disease that presents abnormal alignment of muscle cells called myocardial disarray and left ventricle hypertrophy. It has been shown that about 50 % of patients with HCM will have a first degree relative who also has the diagnosis of the HCM or the simple dominant inheritance. The frequency of the sudden death among patients is 2 - 4 % annually, and some suffers dramatic change.
The purpose of this study was to establish the diagnostic procedure for HCM at early stage by detecting the missense mutation of myocardial troponin-T (Tn-T) gene, which was reported that occurued among approximately 15 % of the HMC families and caused fatal prognosis, and making it clear the relation between it and clinical symptoms.
We analyzed 57 affected genes stored at the Tokyo Women's Medical University HMCfamilies' lymphocyte cell lines bank, and the results were compared with the clinical findings retrospectively. In result, we found out Tn-T mutatio
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ns (Arg92Trp, Phel 10Ile, Lys253Arg) in three families, cardiac β myosin heavy chain (β -MHC) mutation (Gly741Trp) in one family. We compared survival curves for subjective families calculated using the Kaplan-Meier method, then found out that the survival curve value of Tn-T Arg92Trp mutation family whose hypertrophy was seemed to be small from clinical findings was the lowest, and the value increased in β -MHC Gly741Trp mutation family, and Tn-T Phel 10Ile mutation family consistently. It was commonly believed that ventricle hypertrophy of Tn-T mutation patients is relatively small but they have a tendency of transition to dilated stage, but our results suggested that such a tendency depended upon the Tn-T mutation site. It was also suggested that there were different appearances in clinical, microscopic and electron microscopic findings among patients who had same mutation.
We need more study to investigate the causes of symptomatic differences among HCM patients, intending to find out the way to delay the onset of such symptoms. Less
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