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What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease?
Author(s) -
PlunFavreau Helene,
Gandhi Sonia,
WoodKaczmar Alison,
Deas Emma,
Yao Zhi,
Wood Nicholas W.
Publication year - 2008
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1427.032
Subject(s) - pink1 , mitochondrion , lrrk2 , parkinson's disease , locus (genetics) , disease , parkin , genetics , biology , gene , point mutation , mutation , medicine , pathology
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.