Mitochondria and dopamine: new insights into recessive parkinsonism.
Recessively inherited mutations in parkin, DJ-1, and PINK1 have recently been linked to familial forms of parkinsonism. These syndromes are often clinically indistinguishable from Parkinson's disease, as similar neuronal groups, notably dopaminergic neurons, are selectively affected. Studies of the functions of these gene products may provide insights into the pathogenic mechanisms underlying the selective degeneration of dopaminergic neurons. Emerging evidence that one or several of these genes play important roles in mitochondrial function and the dopaminergic system suggests that these events may be early steps of the pathophysiological changes of the disease. This review will summarize recent advances in our understanding of these gene products, with emphasis on the surprising convergence of their functions.
Center for Neurologic Diseases, Brigham and Women's Hospital, Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA. jshen@rics.bwh.harvard.edu
Jie
J
Shen
Mark R
MR
Cookson
D000818:Animals; D004298:Dopamine / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism
D004298:Dopamine