2005 Fiscal Year Final Research Report Summary

Causative gene detection and its functional analysis for autosomal dominant Sagamihara Parkinsonism

Research Project

Project/Area Number	16590843
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Single-year Grants
Section	一般
Research Field	Neurology
Research Institution	National Hospital Orgainzation, Sagamihara National Hospital, Clinical Research center
Principal Investigator	HASEGAWA Kazuko Sagamihara National Hosopital, Clinical Research Center, 電子顕微鏡室, 室長 (70146372)
Co-Investigator(Kenkyū-buntansha)	OBATA Fumiya Kitasato University, 医療衛星学部, 教授 (60129236)
Project Period (FY)	2004 – 2005
Keywords	家族性パーキンソン病 / PARK8 / LRRK2
Research Abstract	We detected a missense mutation in the LRRK2 gene in members of the Japanese family with autosomal dominant Parkingson's desease (PD) (Sagamihara family) on whose basis the PARK8 PD locus was originally defined. Thus, LRRK2 was concluded to be the gene responsible for PARK8. The mutation identified was located in the kinase domain and was identical to that reported in one of the PARK8-linked Caucasian families, suggesting that this mutation is essential for the pathogenesis. The unique pathological features of the Sagamihara family, characterized by pure nigral degeneration without Lewy bodies, provided us with a valuable oppotunity to elucidate the protein structure-pathogenesis relationship of the gene product of LRRK2.

(2 results)