Update on the genetics of Parkinson's disease
Identifieur interne : 002B08 ( Main/Exploration ); précédent : 002B07; suivant : 002B09Update on the genetics of Parkinson's disease
Auteurs : Thomas Gasser [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- DNA Mutational Analysis, Exons (genetics), Genetic disease, Humans, LRRK2, Nervous system diseases, Parkin, Parkinson Disease (genetics), Parkinson disease, Point Mutation (genetics), Polymorphism, Genetic (genetics), Protein Kinases (genetics), Protein-Serine-Threonine Kinases (genetics), Ubiquitin-Protein Ligases (genetics), alpha-Synuclein (genetics), genetics, parkin, synuclein.
- MESH :
- chemical , genetics : Protein Kinases, Protein-Serine-Threonine Kinases, Ubiquitin-Protein Ligases, alpha-Synuclein.
- genetics : Exons, Parkinson Disease, Point Mutation, Polymorphism, Genetic.
- DNA Mutational Analysis, Humans.
Abstract
Over the last few years, several genes for monogenic forms of Parkinson's disease (PD) have been mapped and/or cloned. Mutations have been identified in the gene for α‐synuclein in rare families with dominant PD, indicating that aggregation of this protein in Lewy bodies is probably a crucial step in the molecular pathogenesis of the disorder. A much more common cause for dominant PD, mutations in the gene for leucine‐rich repeat kinase 2 (LRRK2), has recently been identified. Mutations in the parkin gene, in DJ‐1 and PINK1 all cause autosomal recessive parkinsonism of early onset. These genes have been implicated in the proteasomal protein degradation pathway, in the oxidative stress response and mitochondrial function. Mutations in recessive genes probably are pathogenic through loss‐of‐function mechanisms, suggesting that their wildtype products protect dopaminergic cells against a variety of insults. Evidence is emerging that at least some of these genes may play a direct role in the etiology of the common sporadic form of PD. Further, it is likely that the cellular pathways identified in rare monogenic variants of the disease also shed light on the molecular pathogenesis in typical sporadic PD. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21676
Affiliations:
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Le document en format XML
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<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Point Mutation (genetics)</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Protein Kinases (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
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<term>genetics</term>
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<front><div type="abstract" xml:lang="en">Over the last few years, several genes for monogenic forms of Parkinson's disease (PD) have been mapped and/or cloned. Mutations have been identified in the gene for α‐synuclein in rare families with dominant PD, indicating that aggregation of this protein in Lewy bodies is probably a crucial step in the molecular pathogenesis of the disorder. A much more common cause for dominant PD, mutations in the gene for leucine‐rich repeat kinase 2 (LRRK2), has recently been identified. Mutations in the parkin gene, in DJ‐1 and PINK1 all cause autosomal recessive parkinsonism of early onset. These genes have been implicated in the proteasomal protein degradation pathway, in the oxidative stress response and mitochondrial function. Mutations in recessive genes probably are pathogenic through loss‐of‐function mechanisms, suggesting that their wildtype products protect dopaminergic cells against a variety of insults. Evidence is emerging that at least some of these genes may play a direct role in the etiology of the common sporadic form of PD. Further, it is likely that the cellular pathways identified in rare monogenic variants of the disease also shed light on the molecular pathogenesis in typical sporadic PD. © 2007 Movement Disorder Society</div>
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