Factors influencing the onset and progression in patients with V180I genetic Creutzfeldt-Jakob disease

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K07447
• 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: Aichi Medical University
• Principal Investigator: Iwasaki Yasushi 愛知医科大学, 加齢医科学研究所, 教授 (60378172)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: プリオン病 / クロイツフェルト・ヤコブ病 / V180I遺伝性CJD

Outline of Final Research Achievements

To determine the influence of factors of the onset and progression, we assessed 19 Japanese patients with V180I genetic Creutzfeldt-Jakob disease (CJD) with respect to background, clinical course, and disease management. No significant differences between disease durations (the average was 46.3 ± 38.6 months) were found between male (n=3) and female (n=16) patients and patients with methionine homozygosity (n=15) and valine heterozygosity (n=4) at polymorphic codon 129 of the prion protein gene. The disease duration of tube-fed patients (n=11) was significantly longer than that of non-tube-fed patients (n=8). Disease duration was significantly negatively associated with onset age (the average age at onset was 78.8 ± 5.5 years). Total disease duration was significantly longer with V180I genetic CJD than with MM1-type sporadic CJD. Compared with MM1-type sporadic CJD, there were statistically significantly more females and older age at onset.

Free Research Field

プリオン病

Academic Significance and Societal Importance of the Research Achievements

プリオン病の病態解明、有効な治療法および予防法の開発、早期診断法の確立は医学の分野に留まらず、社会全体が希求する重要な研究分野となっており、一刻も早い解決が望まれている。V180I変異にはCJDの病変進展に対して保護的な因子（protective factor）が存在することが推定されており、V180I遺伝性CJDの発症と病態進展に関わる因子を検討することは、プリオン病の病態解明に重要な鍵を与えると考えられる。しかしながら、V180I遺伝性CJDは日本以外ではほとんど報告がなく、本研究は本邦でしか行い得ない研究である。本研究はV180I遺伝性CJDの発症と病態進展に関わる因子の一部を解明した。