DJ-1 (PARK7) and Parkinson's Disease

Publisher Summary This chapter reviews more recent advances in the genetic and clinical aspects of parkinson protein 7 (PARK7) and discusses the molecular biology of this form. PARK7 was linked to parkinsonism under an autosomal recessive model of inheritance. The loss of DJ-1 function causes rare forms of early-onset parkinsonism and links DJ-1 to the mechanisms of maintenance of brain dopamine neurons and the DJ-1 dysfunction to neurodegeneration. From the clinical standpoint, DJ-1 mutations are very rare in early-onset Parkinson's disease (PD), and screening of this gene might be indicated only after the exclusion of mutations in the more commonly involved genes, parkin and PINK1 . An important contribution of DJ-1 to the PD research field has been to focus on the possible role of nuclear and cytoplasmic control of gene expression in the disease pathogenesis. It has long been proposed that DJ-1 influences gene expression by interacting with transcription factors. The chapter also discusses the DJ-1 polymorphisms, neuroimaging of PARK7, pathological correlates of DJ-1 mutations, DJ-1 –related neurodegeneration in model organisms, and the clinical studies of various patients.