Identification of novel gene of spinocerebellar ataxia for new target of therapy.

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K17772
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurology; Medical genome science
• Research Institution: University of Yamanashi
• Principal Investigator: KOH Kishin 山梨大学, 大学院総合研究部, 助教 (00622557)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 脊髄小脳変性 / 遺伝性痙性対麻痺 / シャルコーマリートゥース病

Outline of Final Research Achievements

I had tried to find novel genes of spinocerebellar ataxia in our eight spinocerebellara ataxia families. I used whole-exome analysis, whole-genome analysis, and linkage analysis. I had diagnosed two families among these eight families. I had screened two genes among our data-set. I had found one and two more families with these causative genes. These genes were reported by other teams. That indicated that these genes were truly causative genes. Thereafter, I collected precise clinical data of patients with these gene mutations. I had already reported one of them. I had already submitted another one. I would continue analyzing of remained six families with spinocerebellar ataxia families.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

遺伝性脊髄小脳変性症は未だに根治療法がなく、厚生労働省の指定難病となっている難治な疾患である。治療標的を見出すためにも病態の解明が不可欠であり、小脳萎縮をきたす機序の解明のために原因遺伝子を同定することは必須である。本研究開始時点では同定されていなかった新規の原因遺伝子の家系をそれぞれ2家系、3家系同定することができた。また臨床症状の集積から変異と臨床症状の関連性が今後さらに明らかとなり、治療標的の同定、治療法の開発に寄与するものと考えられる。