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. 2004 May 21;304(5674):1158-60.
doi: 10.1126/science.1096284. Epub 2004 Apr 15.

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Enza Maria Valente  1 , Patrick M Abou-Sleiman, Viviana Caputo, Miratul M K Muqit, Kirsten Harvey, Suzana Gispert, Zeeshan Ali, Domenico Del Turco, Anna Rita Bentivoglio, Daniel G Healy, Alberto Albanese, Robert Nussbaum, Rafael González-Maldonado, Thomas Deller, Sergio Salvi, Pietro Cortelli, William P Gilks, David S Latchman, Robert J Harvey, Bruno Dallapiccola, Georg Auburger, Nicholas W Wood
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Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Enza Maria Valente et al. Science. .

Abstract

Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to chromosome 1p36 (PARK6). Here we show that mutations in PINK1 (PTEN-induced kinase 1) are associated with PARK6. We have identified two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families: a truncating nonsense mutation and a missense mutation at a highly conserved amino acid. Cell culture studies suggest that PINK1 is mitochondrially located and may exert a protective effect on the cell that is abrogated by the mutations, resulting in increased susceptibility to cellular stress. These data provide a direct molecular link between mitochondria and the pathogenesis of PD.

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