Genetic diagnosis for cardiac sudden death: a search for mutations in genes associated with inherited lethal cardiac arrhythmias

2015 Fiscal Year Final Research Report

• Project/Area Number: 24590871
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Legal medicine
• Research Institution: Fukuoka University
• Principal Investigator: MATSUSUE AYA 福岡大学, 医学部, 講師 (70309920)
• Co-Investigator(Kenkyū-buntansha): KUBO shinichi 福岡大学, 医学部, 教授 (10205122) ; HARA kenji 福岡大学, 医学部, 講師 (00090738) ; KASHIWAGI masayuki 福岡大学, 医学部, 准教授 (70301687) ; WATERS brian 福岡大学, 医学部, 助教 (00609480)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 心臓突然死 / 遺伝性致死性不整脈

Outline of Final Research Achievements

Mutations of the SCN5A and RYR2 genes were investigated in 11 forensic autopsy cases suspected of sudden cardiac death that revealed no organic changes. In the SCN5A gene, the subject was found to be heterozygous for an amino acid substitution in exon 20: G>A mutation causing a p.R1193Q substitution. In the VLCAD gene, there were no mutations that caused amino acid substitutions.
We investigated the frequency of the p.R1193Q substitution in more than 4,000 genomic DNA samples from 34 Asian, European, and African populations using TaqMan and/or APLP assays. Allele A (p.1193Q) was detected in most of the Asian populations, but was sporadically observed or absent in the European and African populations. The p.R1193Q substitution is characteristic of Asian populations and allele A must have originated in southern East Asia and then diffused into surrounding populations, flowing into Japan and Korea with fairly high frequencies.

Free Research Field

法医学