シンポジウム１３‐３　次世代シーケンサーによる神経疾患の解明　遺伝性神経疾患の研究‐Ｐｏｓｔｅｒｉｏｒ　ｃｏｌｕｍｎ　ａｔａｘｉａ　ｗｉｔｈ　ｒｅｔｉｎｉｔｉｓ　ｐｉｇｍｅｎｔｏｓａ‐

概要

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With the throughput of next-generation sequencers, even whole genome analysis is a reality. Traditionally, it was important to collect as many samples as possible and to perform sequence analysis of many genes in candidate regions. There has been a paradigm shift in the era of next-generation sequencing; to reveal the significance of raviants produced by next-generation sequencers rather than just to perform sequence analysis becomes the key to elucidate causes of disorders. We performed target capture and next-generation sequencing analyses of a small consanguineous family in which only two members were affected by posterior column ataxia with retinitis pigmentosa (PCARP). We successfully identified a causative mutation in FLVCR1 which cosegregated with the disease. The fact that we could identify the causative gene even from a small family means that the advent of next-generation sequencers has brought us to a next-generation analysis on hereditary disorders. In the near future, many causative genes of hereditary neurodegenerative disorders particularly with small number of affected members will be revealed, which must provide considerable insights into pathogenesis. Approaches utilizing bioinformatics to further narrow down the numerous variations produced by next-generation sequencers are demanded in order to study remaining small families, or sporadic diseases.
日本神経学会の論文