Aim to identify a novel gene related to familial Parkinson's disease

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K07893
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Juntendo University
• Principal Investigator: Nishioka Kenya 順天堂大学, 医学部, 先任准教授 (40348933)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: Parkinson's disease / Whole genome sequencing / Long read sequencing / Whole exome sequencing

Outline of Final Research Achievements

We performed the DNA analyses for a familial Parkinson's disease (PD) with autosomal dominant inheritance, along with targeted sequencing, whole genome sequencing and whole exome sequencing. We identified six candidate genes (FSD1，CDRT15L2，AP2A2, TALDO1, SLC22A3, FBLN2), however our additional analyses did not prove the pathogenicity among them. Next, we aim to analyze structural variants using long read sequencing, collaborating with Yokohama city university.

Free Research Field

臨床遺伝学

Academic Significance and Societal Importance of the Research Achievements

三世代に渡り同一家系内に濃厚な発症者をもつ一家系に焦点を絞り，解析を行った。Whole genome sequencingとwhole exome sequencingを用いて候補領域を同定し，また候補となった遺伝子には，DNA bankからのサンプルとtargeted resequencingを施行したが，病的遺伝子の同定には至らなかった。点変異では説明の付かない変異の可能性を考え，次に構造多型に注目し，現在PacBio社のSequel IIシークエンサーを利用したLong Read Sequencingを行っている。新たなパーキンソン病の原因遺伝子の同定に向けて解析を行っている。