Mutational analysis of the CHCHD2 gene in neurodegenerative diseases

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K09700
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Juntendo University
• Principal Investigator: Li Yuanzhe 順天堂大学, 医学(系)研究科(研究院), 特任助教 (40549292)
• Research Collaborator: IKEDA aya
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: CHCHD2

Outline of Final Research Achievements

We recently identified mutations in the coiled-coil-helix coiled-coil-helix domain containing 2 (CHCHD2) gene in Japanese families with autosomal dominant Parkinson’s disease. We obtained 944 amyotrophic lateral sclerosis (ALS) patients from Japanese Consortium for Amyotrophic Lateral Sclerosis Research. The CHCHD2 gene was assessed in these patients by Sanger sequence. And we screened for variants and evaluated allele frequency. We referred allele frequency of control subjects in Human Genetic Variation Database to compare with that of ALS.　We found four variants on the CHCHD2 region in ALS patients. We identified one novel variant in untranslated region and three variants that had been previously reported. Allele frequencies of three variants did not differ between ALS patients and control subjects.

Free Research Field

臨床神経分子遺伝学

Academic Significance and Societal Importance of the Research Achievements

CHCHD2はさまざまな疾患の関連が示唆されているものの、ゲノム解析からアプローチした報告は不十分である。本研究ではこれまで全く研究報告のないミトコンドリア機能低下が病態に重要であると指摘されているALSについて大規模のゲノム解析を行った。
カスタムパネルの作成より構築されたパーキンソン病関連遺伝子を網羅的に解析できるシステムはパーキンソン病の臨床-ゲノムデータベースの基盤となるゲノム情報蓄積に非常に有用である。