Causative gene detection and its functional analysis for autosomal dominant Sagamihara Parkinsonism
| Project/Area Number |
16590843
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | National Hospital Orgainzation, Sagamihara National Hospital, Clinical Research center |
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Principal Investigator |
HASEGAWA Kazuko Sagamihara National Hosopital, Clinical Research Center, 電子顕微鏡室, 室長 (70146372)
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| Co-Investigator(Kenkyū-buntansha) |
OBATA Fumiya Kitasato University, 医療衛星学部, 教授 (60129236)
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| Project Period (FY) |
2004 – 2005
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| Project Status |
Completed (Fiscal Year 2005)
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| Budget Amount *help |
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2005: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2004: ¥2,900,000 (Direct Cost: ¥2,900,000)
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| Keywords | 家族性パーキンソン病 / PARK8 / LRRK2 / DRDN / I2020T / familial Parkinsonisum |
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| 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.
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Report
(3 results)
Research Products
(3 results)
