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Human Molecular Genetics Advance Access originally published online on February 19, 2004
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Human Molecular Genetics, 2004, Vol. 13, Review Issue 1 R127-R133
DOI: 10.1093/hmg/ddh089

Parkin genetics: one model for Parkinson's disease

Ignacio F. Mata, Paul J. Lockhart and Matthew J. Farrer*

Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA

The genetic epidemiology of late-onset idiopathic Parkinson's disease (PD) and ‘parkin-proven’ parkinsonism (AR-JP) are limited. The clinical phenotype, prognosis and treatments are similar although PD is prevalent while AR-JP is rare. Molecular genetic and functional analysis suggests the E3 ubiquitin protein ligase activity of parkin, and the ubiquitin-proteosomal pathway, is central to disease pathogenesis. Herein, we compare and contrast PD and AR-JP and discuss the implications of recent data about parkin's genomic organization, regulation and function.

* To whom correspondence should be addressed at: Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Birdsall Bldg, Rm 206, Jacksonville, FL 32224, USA. Tel: +1 9049530158; Fax: +1 9049537370; Email: farrer.matthew{at}mayo.edu


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