Is Parkinson's disease lysosomal disease? A large-scale clinical and genetic approach

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K17047
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Juntendo University
• Principal Investigator: Ogaki Kotaro 順天堂大学, 医学部, 非常勤講師 (20459035)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: パーキンソン病 / 遺伝子 / リソソーム病 / 神経科学 / 次世代シーケンサー

Outline of Final Research Achievements

At the discovery stage, 300 familial Parkinson's disease (PD) cases, 100 sporadic PD cases, and 200 healthy controls were used to comprehensively analyze 54 lysosomal disease (LSD) genes by targeted sequencing. From the obtained genetic information, we extracted genetic mutations in the familial PD patient group and the sporadic PD patient group, and added statistical analysis with the healthy control group and analysis using the genetic information of the public database. We narrowed down new candidates of causative genes and susceptibility genes. Next, we are going to add gene analyses of the replication stage and isolate novel PD-related genes.

Free Research Field

神経遺伝

Academic Significance and Societal Importance of the Research Achievements

新規原因遺伝子候補・感受性遺伝子単離後は、細胞実験・動物実験などの機能解析を進めリソソーム機能障害を治療ターゲットとした創薬を目指すのみならず、リソソーム病のような代謝性疾患ではenzyme replacement therapyが可能でありプレシジョンメディスンの開発を目指すことが可能である。