2016 Fiscal Year Final Research Report
A novel TRPM4 mutation identified in a patient with catecholaminergic polymorphic ventricular tachycardia
Project/Area Number |
15K21082
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Cardiovascular medicine
General physiology
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Research Institution | Shiga University of Medical Science |
Principal Investigator |
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Project Period (FY) |
2015-04-01 – 2017-03-31
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Keywords | 分子心臓学 / 疾患関連遺伝子 / チャネル / 不整脈 |
Outline of Final Research Achievements |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease characterized by adrenergically mediated ventricular tachyarrhythmias that cause sudden cardiac death. We identified a novel TRPM4 mutation in a five-year-old boy with CPVT. Electrophysiological analysis revealed small TRPM4 currents at a calcium concentration of 10μM in spite of no significant current changes at a lower concentration of 1μM. Western blotting analysis showed no significant difference in plasma membrane expression between normal and mutant TRPM4 channels. These results indicate that the effect of the TRPM4 mutation is related to calcium sensitivity.
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Free Research Field |
内科系臨床医学
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