Molecular pathogenesis study for migraine through integrated genomics based on exome analysis

2015 Fiscal Year Final Research Report

• Project/Area Number: 25461270
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: Takahashi Yuji 国立研究開発法人国立精神・神経医療研究センター, 病院, 医長 (00372392)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 片麻痺性片頭痛 / エクソーム / 網膜色素変性症

Outline of Final Research Achievements

The purpose of this study is to identify causative genes for familial hemiplegic migraine through exome analysis and bioinformatics. Affected individuals of a pedigree with severe attacks of hemiplegic migraine complicated with retinitis pigmentosa were subjected to whole exome analysis. Narrowing-down of variants shared among affected individuals through bioinformatic analysis integrating gene expression data has led to the successful identification of three variants considered as candidates for the pathogenic mutation. In addition, 29 exomes have been conducted in this project, which led to the identification of mutations in known causative genes in two pedigrees. In the remaining 27 pedigrees, 2473 novel non-synonymous variants have been identified in total, among which 188 variants were shared among multiple pedigrees. Further accumulation of exome data should be necessary to identify causative genes through leveraging the variation data obtained in this study.

Free Research Field

分子遺伝学