Study of Hirosaki Family with dominantly inherited Alzheimer's disease

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K07385
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 51030:Pathophysiologic neuroscience-related
• Research Institution: Gunma University (2019-2020); Hirosaki University (2018)
• Principal Investigator: Shoji Mikio 群馬大学, 医学部, 非常勤講師 (60171021)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 常染色体優性遺伝性アルツハイマー病 / バイオマーカー / 脳脊髄液 / 血液 / Abeta / リン酸化タウ

Outline of Final Research Achievements

Natural course of Alzheimer's disease (AD) of inherited AD Hirosaki families and sporadic Hirosaki cohort was clarified. Clinical Usefulness of CSF and plasma biomarkers were invented and verified. These CSF and plasma biomarkers were Abeta38, Abeta40, Abeta42, Abeta43, total tau, p181tau, p217tau, alpha-synuclein and neurofilament light chain. All these biomarkers were useful for prediction and diagnosis of preclinical AD stages. Association among APOE genotypes, age and Abeta42, amyloid/tau accumulation and cognitive life stale, cognitive disturbance and microbleeds, AD pathology and mRNA were clarified. These results could contribute and facilitate to development of global cohort study and intervention study by novel disease-modifying drugs.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

本研究により，遺伝性および孤発例アルツハイマー病の自然経過が明らかにされ，臨床応用に有用なバイオマーカーの基礎的検討と臨床的有用性が示された．今後のAlzheimer病の研究と根本的治療薬開発に大きな貢献をもたらすものと考えられる．