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A novel TRPM4 mutation identified in a patient with catecholaminergic polymorphic ventricular tachycardia

Research Project

Project/Area Number 15K21082
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Cardiovascular medicine
General physiology
Research InstitutionShiga University of Medical Science

Principal Investigator

Hattori Tetsuhisa  滋賀医科大学, 医学部, 特任助教 (80638932)

Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords分子心臓学 / 疾患関連遺伝子 / チャネル / 不整脈 / 遺伝子
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.

Report

(3 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report

URL: 

Published: 2015-04-16   Modified: 2018-03-22  

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