2018 Fiscal Year Final Research Report
Elucidation of the pathogenicity of novel gene mutations detected through comprehensive genetic analysis in familial ALS
Project/Area Number |
17H06526
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Research Category |
Grant-in-Aid for Research Activity Start-up
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Allocation Type | Single-year Grants |
Research Field |
Neurology
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Research Institution | Tohoku University |
Principal Investigator |
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Project Period (FY) |
2017-08-25 – 2019-03-31
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Keywords | 遺伝子 / 神経変性疾患 |
Outline of Final Research Achievements |
The purpose of this research is to reveal the pathogenicity of gene mutations detected in familial amyotrophic lateral sclerosis (ALS) and the underlying mechanism of selective motor neuron degeneration. We performed comprehensive genetic analysis using next-generation sequencer in a consecutive series of 134 Japanese familial ALS pedigrees. We identified known mutations in approximately half of all cases. In the remaining genetically unidentified cases, we have found novel candidate mutations and perform validation of their significance.
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Free Research Field |
神経変性
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Academic Significance and Societal Importance of the Research Achievements |
1991年より有数規模の日本人・家族性ALSサンプルを収集し、続々と追加試料を得て研究対象を集積している。また、次世代シークエンサーとバイオインフォマティクス技術を駆使して、多検体を効率的に解析する体制を確立している。本研究は、単なる遺伝子解析にとどまらず、創薬に活用できるALS細胞モデル作出にもつながり、新しい変性機構の解明によって、広く神経変性疾患の病態解明と治療法開発に波及効果をもち得る。
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