Elucadation of genetic disorders and molecular pathogenesis in inherited bradyarrhythmia due to the abnormalities in genes encoding sarcomere components

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860572
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cardiovascular medicine
• Research Institution: Nagasaki University
• Principal Investigator: ISHIKAWA Taisuke 長崎大学, 医歯薬学総合研究科(医学系), 助教 (60708692)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 徐脈 / 不整脈 / 遺伝子 / 変異 / 遺伝子解析 / 心房 / 興奮伝導 / 次世代シークエンサー

Outline of Final Research Achievements

The etiology of familial suprabventricular bradyarrhythmia without basal heart disorders is partly due to genetic disorders. The aim of the study is to elucidate the responsible genes and mutations in the patients susceptible for genetic etiology. By using next generation sequencer to screen mutations for 200 genes that are preferentially expressed in the heart, we identified responsible genes and mutations in approximately 40% of cases (12 probands) with unknown etiology, including two novel responsible genes for sick sinus syndrome. In combination with the functional assay by using heterologous overexpression system, we determined 11 mutations in 6 genes as genetic disorders underlysing familial supraventricular bradyarrhythmia.

Free Research Field

循環器遺伝学