期刊
NEUROSCIENCE BULLETIN
卷 33, 期 1, 页码 115-117出版社
SPRINGER
DOI: 10.1007/s12264-016-0065-2
关键词
Parkinson's disease; Genetic variant; SNCA; CRISPR/Cas9
Parkinson's disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide, but its cause and pathogenesis are still not fully understood. Earlier studies have shown that SNCA, which encodes alpha-synuclein, is one of the key genes associated with PD. Single-nucleotide polymorphism (SNP) variants of SNCA are thought to be correlated with disease onset. The underlying mechanisms however are enigmatic. A recent study published in Nature revealed that one of the SNP variants in the SNCA non-coding element elevated alpha-synuclein expression in human neurons by reducing the binding efficiency of transcription factors, demonstrating a previously uncharted role for SNPs in the pathogenesis of PD.
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