Analysis of Parkinson's disease brain–derived DNA for alpha-synuclein coding somatic mutations
Identifieur interne : 000440 ( Pmc/Corpus ); précédent : 000439; suivant : 000441Analysis of Parkinson's disease brain–derived DNA for alpha-synuclein coding somatic mutations
Auteurs : Christos Proukakis ; Maryiam Shoaee ; James Morris ; Timothy Brier ; Eleanna Kara ; Una-Marie Sheerin ; Gavin Charlesworth ; Eduardo Tolosa ; Henry Houlden ; Nicholas W. Wood ; Anthony H. SchapiraSource :
- Movement Disorders [ 0885-3185 ] ; 2014.
Abstract
Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD.
Expanding on our recent negative small study, we used high-resolution melting (HRM) analysis to screen
We did not detect any evidence of somatic coding mutations. Three cases were heterozygous for known silent polymorphisms. The protocol we used was sensitive enough to detect 5% to 10% mutant DNA.
Using DNA predominantly from cerebellum, but also from frontal cortex and substantia nigra (n = 20 each), we have not detected any somatic coding
Url:
DOI: 10.1002/mds.25883
PubMed: 24752924
PubMed Central: 4190821
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