2018 Fiscal Year Final Research Report
Elucidation of mechanism of cardiac calcium channel (CaV1.2) abnormality in long QT syndrome
| Project/Area Number |
17K15999
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Cardiovascular medicine
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
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| Research Collaborator |
Ohno Seiko
Horie Minoru
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Keywords | QT延長症候群8型 / CACNA1C遺伝子 |
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| Outline of Final Research Achievements |
In a cohort of about 5000 of inherited lethal arrhythmic patients we collected, 892 LQTS patients who identified no mutation genes while exhibiting QT prolongation were extracted and searched for CACNA1C gene mutations. As a result, CACNA1C mutations were identified in 17 probands, including 3 probands with classical Timothy syndrome.
As a result of analyzing the clinical and electrocardiographic characteristics in these LQT8 patients, the cases with late-appearance T wave showed severe clinical phenotypes at a high rate. It was suggested that the larger of calcium current by mutation lead to the late-appearance T wave changes. We made a paper comparing this feature with LQT3, which exhibits similar ECG changes (currently being submitted to the peer review journal).
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| Free Research Field |
遺伝性心臓疾患
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| Academic Significance and Societal Importance of the Research Achievements |
まず従来は非常に稀で重篤な臨床像を呈すると考えられてきたLQT8の同定率がLQT3に匹敵するほど高く、心電図異常以外の症状を呈さない軽症例も存在することが明らかとなり、実臨床にてLQT患者の診療にあたる上で重要な事実となった。またこれらLQT8患者の心電図学的特徴とイオンチャネルの機能変化・臨床像の重症度を紐づけることで、LQT8患者の中でもハイリスク群に属する患者を予測することができ、治療や安全管理の上で非常に役立つと考えられる。
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