What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease?
Identifieur interne : 000C22 ( Main/Exploration ); précédent : 000C21; suivant : 000C23What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease?
Auteurs : Helene Plun-Favreau [Royaume-Uni] ; Sonia Gandhi [Royaume-Uni] ; Alison Wood-Kaczmar [Royaume-Uni] ; Emma Deas [Royaume-Uni] ; Zhi Yao [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]Source :
- Annals of the New York Academy of SciencesMitochondria and Oxidative Stress in Neurodegenerative Disorders [ 0077-8923 ] ; 2008-12.
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Abstract
Parkinson's disease (PD) is a common, disabling, neurodegenerative disease. Our knowledge of the molecular events leading to PD is being greatly enhanced by the study of relatively rare familial form of the disease. Nevertheless, the pathways leading from the genetic mutations to nigral cell degeneration and the other features in PD remain poorly understood. The identification of PINK1, a mitochondrial putative protein kinase, has helped understand the pathophysiology of mitochondria and their potential role in PD. Mutations in PINK1 are associated with the PARK6 autosomal recessive, early‐onset, PD‐susceptibility locus. Point mutations in another mitochondrial protein, HtrA2, are a susceptibility factor for PD (PARK13 locus). We report here the results of investigations into the interactors and pathways of these two mitochondrial molecules (PINK1 and HtrA2) in a range of models and human PD tissue.
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DOI: 10.1196/annals.1427.032
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Our knowledge of the molecular events leading to PD is being greatly enhanced by the study of relatively rare familial form of the disease. Nevertheless, the pathways leading from the genetic mutations to nigral cell degeneration and the other features in PD remain poorly understood. The identification of PINK1, a mitochondrial putative protein kinase, has helped understand the pathophysiology of mitochondria and their potential role in PD. Mutations in PINK1 are associated with the PARK6 autosomal recessive, early‐onset, PD‐susceptibility locus. Point mutations in another mitochondrial protein, HtrA2, are a susceptibility factor for PD (PARK13 locus). We report here the results of investigations into the interactors and pathways of these two mitochondrial molecules (PINK1 and HtrA2) in a range of models and human PD tissue.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Plun Avreau, Helene" sort="Plun Avreau, Helene" uniqKey="Plun Avreau H" first="Helene" last="Plun-Favreau">Helene Plun-Favreau</name></region><name sortKey="Deas, Emma" sort="Deas, Emma" uniqKey="Deas E" first="Emma" last="Deas">Emma Deas</name><name sortKey="Gandhi, Sonia" sort="Gandhi, Sonia" uniqKey="Gandhi S" first="Sonia" last="Gandhi">Sonia Gandhi</name><name sortKey="Wood Aczmar, Alison" sort="Wood Aczmar, Alison" uniqKey="Wood Aczmar A" first="Alison" last="Wood-Kaczmar">Alison Wood-Kaczmar</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. 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