Genetics and Epigenetics of Parkinson's Disease
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 PAR...
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| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/489830 |
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| _version_ | 1832549486275067904 |
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| author | Fabio Coppedè |
| author_facet | Fabio Coppedè |
| author_sort | Fabio Coppedè |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-fe9c873c21764180a6a4e47dfe30a906 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-fe9c873c21764180a6a4e47dfe30a9062025-02-03T06:11:20ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/489830489830Genetics and Epigenetics of Parkinson's DiseaseFabio Coppedè0Faculty of Medicine, University of Pisa, 56126 Pisa, ItalyIn 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.http://dx.doi.org/10.1100/2012/489830 |
| spellingShingle | Fabio Coppedè Genetics and Epigenetics of Parkinson's Disease The Scientific World Journal |
| title | Genetics and Epigenetics of Parkinson's Disease |
| title_full | Genetics and Epigenetics of Parkinson's Disease |
| title_fullStr | Genetics and Epigenetics of Parkinson's Disease |
| title_full_unstemmed | Genetics and Epigenetics of Parkinson's Disease |
| title_short | Genetics and Epigenetics of Parkinson's Disease |
| title_sort | genetics and epigenetics of parkinson s disease |
| url | http://dx.doi.org/10.1100/2012/489830 |
| work_keys_str_mv | AT fabiocoppede geneticsandepigeneticsofparkinsonsdisease |