| Autor: |
Schmitt I; Department of Neurology, University of Bonn, Bonn, Germany., Wüllner U, van Rooyen JP, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic VS, Klein C, Ramirez A |
| Jazyk: |
angličtina |
| Zdroj: |
European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1265-9. Date of Electronic Publication: 2012 May 23. |
| DOI: |
10.1038/ejhg.2012.84 |
| Abstrakt: |
Alpha-synuclein (SNCA) is a major risk gene for Parkinson's disease (PD) and increased SNCA gene dosage results in a parkinsonian syndrome in affected families. Regulatory regions relevant for SNCA expression include the 3' untranslated region (UTR), which among other regulatory elements contains several micro-RNA-binding sites. Interestingly, variants located in the 3' region of SNCA have been associated with PD in two genome-wide association studies. To test whether private mutations in this region contribute to PD, we sequenced the 3'UTR of SNCA in 1285 PD patients and 1120 age/sex-matched healthy controls. We found two rare variants, the one corresponding to the single nucleotide polymorphism rs145304567 and the novel variant c.*1004_1008delTTTTT. Although rs145304567 affects the putative-binding site of microRNA (miRNA) -433, the allele distribution was similar in PD patients and controls, and the expression of SNCA mRNA was not related to the genotype. Furthermore, a regulatory effect of miRNA-433 on SNCA expression levels was not detected. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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