2020 Fiscal Year Final Research Report
The investigation of genetics and pathophysiological mechanism in hypertrophic cardiomyopathy
| Project/Area Number |
16K09440
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Cardiovascular medicine
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| Research Institution | Kochi University |
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Principal Investigator |
Kubo Toru 高知大学, 教育研究部医療学系臨床医学部門, 講師 (80325422)
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| Co-Investigator(Kenkyū-buntansha) |
北岡 裕章 高知大学, 教育研究部医療学系臨床医学部門, 教授 (10274375)
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| Project Period (FY) |
2016-04-01 – 2021-03-31
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| Keywords | 肥大型心筋症 / 遺伝子解析 / サルコメア遺伝子変異 / 突然死 / 塞栓症 / 心不全 |
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| Outline of Final Research Achievements |
We performed genetic analysis, pathophysiological evaluation including identification of risk markers, and elucidation of genotype-phenotype correlation in hypertrophic cardiomyopathy (HCM). In genetic analysis, we screened several sarcomere genes in over 200 HCM families. he pathogenic variation analysis, clinical type evaluation, and the relationship between genotype and phenotype in hypertrophic cardiomyopathy. In the pathogenic mutation analysis, mutation screening was performed mainly on the sarcomere protein gene in more than 200 HCM patients. Regarding the clinical impact of presence of those sarcomere mutations, we found that patients with sarcomere gene mutations experienced more frequent HCM-related morbid events. We also identified the risk of sudden death, the risk of embolism, and the risk factors for the progression of left ventricular remodeling of this disease. Identification of these clinical markers is an extremely important finding in clinical management of HCM.
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| Free Research Field |
心筋症
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| Academic Significance and Societal Importance of the Research Achievements |
肥大型心筋症は一般人口の少なくとも500人に1人の頻度で存在する疾患であり、若年者の突然死の原因疾患として最も頻度が高い。本症は遺伝性疾患とされているが、日本人患者を対象にした遺伝子情報と臨床病型との関連性の検討は十分には行われていない。今回の研究で、遺伝子変異の同定される患者は変異非同定患者に比して、予後が不良であることが判明した。このことは本症の病因遺伝子変異情報が臨床の現場にうまく還元できる可能性を示した。さらに今回の研究では、本症における突然死リスク、塞栓症リスク、そして心不全に進展しやすいリスク因子の同定に成功し、肥大型心筋症の診療に極めて重要な知見を発信することができた。
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