ABSTRACT

Recessively inherited mutations in the PARKIN, DJ-1, and PINK1 genes have recently been linked to familial forms of parkinsonism, which are often clinically indistinguishable from Parkinson’s disease (PD). Various mutant mice carrying a germline deletion in either the PARKIN or the DJ-1 gene have been developed to study the normal functions of these gene products, which may provide insights into the pathogenic mechanisms underlying the selective degeneration of dopaminergic neurons. This chapter will summarize recent studies of these loss-of-function mutant mice and discuss their implications to the pathogenesis of PD.