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Genetics and epigenetics of Parkinson's disease.
ScientificWorldJournal. 2012; 2012:489830.S

Abstract

In 1997 a mutation in the a-synuclein (SNCA) gene was associated with familial autosomal dominant Parkinson's disease (PD). Since then, several loci (PARK1-15) and genes have been linked to familial forms of the disease. There is now sufficient evidence that six of the so far identified genes at PARK loci (a-synuclein, leucine-rich repeat kinase 2, parkin, PTEN-induced putative kinase 1, DJ-1, and ATP13A2) cause inherited forms of typical PD or parkinsonian syndromes. Other genes at non-PARK loci (MAPT, SCA1, SCA2, spatacsin, POLG1) cause syndromes with parkinsonism as one of the symptoms. The majority of PD cases are however sporadic "idiopathic" forms, and the recent application of genome-wide screening revealed almost 20 genes that might contribute to disease risk. In addition, increasing evidence suggests that epigenetic mechanisms, such as DNA methylation, histone modifications, and small RNA-mediated mechanisms, could regulate the expression of PD-related genes.

Authors+Show Affiliations

Faculty of Medicine, University of Pisa, Pisa, Italy. f.coppede@geog.unipi.it

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22623900

Citation

Coppedè, Fabio. "Genetics and Epigenetics of Parkinson's Disease." TheScientificWorldJournal, vol. 2012, 2012, p. 489830.
Coppedè F. Genetics and epigenetics of Parkinson's disease. ScientificWorldJournal. 2012;2012:489830.
Coppedè, F. (2012). Genetics and epigenetics of Parkinson's disease. TheScientificWorldJournal, 2012, 489830. https://doi.org/10.1100/2012/489830
Coppedè F. Genetics and Epigenetics of Parkinson's Disease. ScientificWorldJournal. 2012;2012:489830. PubMed PMID: 22623900.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics and epigenetics of Parkinson's disease. A1 - Coppedè,Fabio, Y1 - 2012/05/01/ PY - 2011/10/15/received PY - 2011/12/21/accepted PY - 2012/5/25/entrez PY - 2012/5/25/pubmed PY - 2012/10/6/medline SP - 489830 EP - 489830 JF - TheScientificWorldJournal JO - ScientificWorldJournal VL - 2012 N2 - In 1997 a mutation in the a-synuclein (SNCA) gene was associated with familial autosomal dominant Parkinson's disease (PD). Since then, several loci (PARK1-15) and genes have been linked to familial forms of the disease. There is now sufficient evidence that six of the so far identified genes at PARK loci (a-synuclein, leucine-rich repeat kinase 2, parkin, PTEN-induced putative kinase 1, DJ-1, and ATP13A2) cause inherited forms of typical PD or parkinsonian syndromes. Other genes at non-PARK loci (MAPT, SCA1, SCA2, spatacsin, POLG1) cause syndromes with parkinsonism as one of the symptoms. The majority of PD cases are however sporadic "idiopathic" forms, and the recent application of genome-wide screening revealed almost 20 genes that might contribute to disease risk. In addition, increasing evidence suggests that epigenetic mechanisms, such as DNA methylation, histone modifications, and small RNA-mediated mechanisms, could regulate the expression of PD-related genes. SN - 1537-744X UR - https://www.unboundmedicine.com/medline/citation/22623900/Genetics_and_epigenetics_of_Parkinson's_disease_ L2 - https://doi.org/10.1100/2012/489830 DB - PRIME DP - Unbound Medicine ER -