Research Project
Grant-in-Aid for Research Activity Start-up
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.
