Proceedings of the National Academy of Sciences · 2003 · 124 citations · 47 references
Life SciencesNeurobiologyNeuroscienceMolecular NeurobiologyMolecular NeuroscienceNeurodegenerationMolecular Basis Of NeurodegenerationNeurodegeneration MechanismsNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersDopamine BiosynthesisDopaminergic NeurodegenerationDopaminergic Neuron DeathDopaminergic NeuronsGlobus Pallidus Internal SegmentParkin MutationsParkinsonian DegenerationViral Vector-mediated Knock-in
Mutations in the parkin gene are linked to autosomal-recessive juvenile parkinsonism (AR-JP). Parkin functions as a ubiquitin protein ligase in the degradation of several proteins, including the neuron-specific septin CDCrel-1. AR-JP-associated parkin mutations inhibit ubiquitination and degradation of CDCrel-1 and other parkin target proteins. Here we show that recombinant adeno-associated virus-mediated CDCrel-1 gene transfer to the substantia nigra of rats results in a rapid onset (6-10 days) of nigral and striatal CDCrel-1 expression that is followed by a progressive loss of nigral dopaminergic neurons and a decline of the striatal dopamine levels. In contrast, neurons of the globus pallidus are spared from CDCrel-1 toxicity. Furthermore, CDCrel-1 inhibits the release of dopamine from stably-transfected PC12 cells, and pharmacological inhibition of tyrosine hydroxylase and dopamine synthesis in rats prevents CDCrel-1-induced nigral neurodegeneration. These results show that CDCrel-1 overexpression exerts dopamine-dependent neurotoxicity and suggest that inhibition of dopamine secretion by CDCrel-1 may contribute to the development of AR-JP.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada, Shuichi Asakawa, Nobutaka Hattori et al. · Nature · 1998 · 5.2K citations