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2023 Fiscal Year Final Research Report

Missense rare variant analysis of APOE: Exploring the link between lipid metabolism and Alzheimer's disease

Research Project

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Project/Area Number 21K07271
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 51030:Pathophysiologic neuroscience-related
Research InstitutionNiigata University

Principal Investigator

Miyashita Akinori  新潟大学, 脳研究所, 准教授 (60323995)

Co-Investigator(Kenkyū-buntansha) 他田 真理  新潟大学, 脳研究所, 准教授 (30646394)
阿部 学  新潟大学, 脳研究所, 准教授 (10334674)
Project Period (FY) 2021-04-01 – 2024-03-31
KeywordsAPOE / アルツハイマー病 / 感受性遺伝子 / バリアント / レアミスセンスバリアント / コモンミスセンスバリアント
Outline of Final Research Achievements

The apolipoprotein E gene (APOE) is a significant susceptibility gene for Alzheimer's disease (AD). In recent years, studies in Western countries have focused on rare missense variants (RMVs) of APOE with a minor allele frequency (MAF) of less than 1%, leading to important discoveries that impact the pathology of AD. However, by 2020, no such studies had been conducted on Japanese individuals. Consequently, the applicant initiated this research project to investigate APOE RMVs in the Japanese population. During the project, more than 5,800 subjects were analyzed. The results revealed the presence of RMVs that are unique to East Asians, including Japanese individuals.

Free Research Field

神経疾患

Academic Significance and Societal Importance of the Research Achievements

疾患の病因解明や新たな治療戦略を創出する上で、アミノ酸置換や機能喪失を引き起こすレアバリアントの同定とその機能解析は、大きなブレイクスルーをもたらす可能性がある。例えば、APOEで同定されたクライストチャーチバリアントは神経細胞内に蓄積する毒性の高いリン酸化タウタンパクに対して抵抗性を示すことが明らかにされた。本研究プロジェクトを通じて同定されたAPOE RMVsの機能解析を今後展開することで、このような病態と関わりが理解されると期待される。

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Published: 2025-01-30  

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