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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 ?-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 ?-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.

SUBMITTER: Lu S

PROVIDER: S-EPMC5567539 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Lu Shenzhao S Zhou Jiawei J

Neuroscience bulletin 20161014 1

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 ...[more]

PMID: 27743341

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