title: Finding the 'Guilty' Gene Variant of Sporadic Parkinson's Disease Via CRISPR/Cas9.
abstract: 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 α-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 α-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.
authors.affiliation: Institute of Neuroscience, State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.
authors.forename: Shenzhao
authors.initials: S
authors.lastname: Lu
authors.affiliation: Institute of Neuroscience, State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China. jwzhou@ion.ac.cn.
authors.forename: Jiawei
authors.initials: J
authors.lastname: Zhou
mesh_terms: D056726:Genetic Association Studies; D024861:Genetic Enhancement; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: C497604:SNCA protein, human; D014157:Transcription Factors; D051844:alpha-Synuclein
keywords: CRISPR/Cas9; Genetic variant; Parkinson’s disease; SNCA