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Update on the genetics of Parkinson's disease.
Mov Disord. 2007 Sep; 22 Suppl 17:S343-50.MD

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 alpha-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.

Authors+Show Affiliations

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. thomas.gasser@med.uni-tuebingen.de

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18175395

Citation

Gasser, Thomas. "Update On the Genetics of Parkinson's Disease." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 22 Suppl 17, 2007, pp. S343-50.
Gasser T. Update on the genetics of Parkinson's disease. Mov Disord. 2007;22 Suppl 17:S343-50.
Gasser, T. (2007). Update on the genetics of Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society, 22 Suppl 17, S343-50. https://doi.org/10.1002/mds.21676
Gasser T. Update On the Genetics of Parkinson's Disease. Mov Disord. 2007;22 Suppl 17:S343-50. PubMed PMID: 18175395.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Update on the genetics of Parkinson's disease. A1 - Gasser,Thomas, PY - 2008/1/5/pubmed PY - 2008/2/21/medline PY - 2008/1/5/entrez SP - S343 EP - 50 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 22 Suppl 17 N2 - 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 alpha-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. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/18175395/Update_on_the_genetics_of_Parkinson's_disease_ L2 - https://doi.org/10.1002/mds.21676 DB - PRIME DP - Unbound Medicine ER -