2021 Fiscal Year Final Research Report

International study to establish a new prion identified with fatal familial or sporadic insomnia.

Research Project

PDF

Project/Area Number	19KK0213
Research Category	Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
Allocation Type	Multi-year Fund
Review Section	Medium-sized Section 52:General internal medicine and related fields
Research Institution	Tohoku University
Principal Investigator	KITAMOTO Tetsuyuki 東北大学, 医学系研究科, 教授 (20192560)
Co-Investigator(Kenkyū-buntansha)	竹内敦子東北大学, 医学系研究科, 助教 (00535239) 甲斐英朗東北大学, 医学系研究科, 技術補佐員 (70648261)
Project Period (FY)	2019-10-07 – 2022-03-31
Keywords	fatal familial insomnia / thalamic form / M2C(sv) prion / M2C(lv) prion
Outline of Final Research Achievements	Previously we identified a new prion called M2C(sv) that means codon 129 met genotype, cortical small vacuolation, and type 2 PrPres. In this study, we confirmed M2C(sv) prion in the Italian family members with fatal familial insomnia, and patients with sporadic thalamic form of Creutzfeldt-Jakob disease (CJD). We identified this new prion often in sporadic prion diseases in addition to the thalamic form. We also confirmed that M2C(sv) prion has a different infectivity compared with M2C(lv) prion. Knock-in mouse with human codon 232 mutation can transmit with M2C(lv) prion, but not with M2C(sv). Therefore, both prions have not only distinct pathological changes, but also a distinct infectivity.
Free Research Field	神経内科学
Academic Significance and Societal Importance of the Research Achievements	本研究は、我々の見出したM2C(sv)プリオンがわが国だけでなく、ヨーロッパ特にイタリアのオリジナルなＦＦＩ家系でも確認されるという当初の目標を達成しただけでなく、新しいプリオンが、広く孤発性プリオン病にも認められることを証明した。さらに、従来の皮質型プリオンとは異なる感染性を示すことを初めて証明した研究である。よって従来の皮質型のプリオンをM2C(lv)プリオンと呼び、新しい皮質型のプリオンをM2C(sv)と呼ぶことを提唱した。このlvはlarge vacuoleの略であり、svはsmall vacuoleの略である。