Investigation of the association between lysosomal storage disorder and Parkinson's disease

2017 Fiscal Year Final Research Report

• Project/Area Number: 16H07184
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: Juntendo University
• Principal Investigator: Oji Yutaka 順天堂大学, 医学部, 助手 (60777845)
• Project Period (FY): 2016-08-26 – 2018-03-31
• Keywords: リソソーム病 / オートファジー / iPS細胞 / α-シヌクレイン

Outline of Final Research Achievements

Research leader found a novel mutation of gene X involved in the onset of lysosomal disease in three families of autosomal dominant Parkinson's disease. Impairment of autophagic-lysosomal pathway and elevation of α-synuclein were revealed in induced pluripotent stem cells (iPSCs)-derived dopaminergic neurons. Neuronal loss of tyrosine-hydroxylase (TH) positive neurons in the substantia nigra was revealed in mice harboring mutation in gene X. These findings suggest the important involvement of mechanism of lysosomal storage disorder in the pathogenesis of Parkinson's disease.

Free Research Field

パーキンソン病