Literature DB >> 27743341

Finding the 'Guilty' Gene Variant of Sporadic Parkinson's Disease Via CRISPR/Cas9.

Shenzhao Lu1, Jiawei Zhou2.   

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.

Entities:  

Keywords:  CRISPR/Cas9; Genetic variant; Parkinson’s disease; SNCA

Mesh:

Substances:

Year:  2016        PMID: 27743341      PMCID: PMC5567539          DOI: 10.1007/s12264-016-0065-2

Source DB:  PubMed          Journal:  Neurosci Bull        ISSN: 1995-8218            Impact factor:   5.203


  14 in total

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Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504

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