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Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [ChIP-seq]

ABSTRACT: Transcription regulation of SNCA by dystonia type 6 gene product THAP1 [ChIP-seq]

PROVIDER: PRJNA592921 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR10573464.fastq.gz	Fastqsanger.gz
	SRR10573465.fastq.gz	Fastqsanger.gz
	SRR10573466_1.fastq.gz	Fastqsanger.gz
	SRR10573466_2.fastq.gz	Fastqsanger.gz
	SRR10573467.fastq.gz	Fastqsanger.gz

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Transcription regulation of SNCA by dystonia type 6 gene product THAP1

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Project description:DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by involuntary muscle contractions. The disease is caused by mutations in the THAP1 gene, although the exact mechanisms through which these mutations contribute to dystonia's pathophysiology remain elusive. The incomplete penetrance of DYT-tHAP1 dystonia, estimated between 40-60%, indicated that an environmental trigger might be necessary for the disease to manifest in genetically predisposed individuals. To explore the gene-environment interaction in dystonia development, we performed a sciatic nerve crush injury in a genetically predisposed DYTHAP1 heterozygous knockout mouse mode (Thap1+/-). Using a multi-omic approach, we investigated the underlying pathophysiological pathways. Phenotypic analysis with an unbiased deep learning algorithm showed that nerve-injured Thap1+/- mice exhibited more dystonia-like movements over the 12-week experiment than naive Thap1+/- mice. Multi-omic analysis of the cerebellum, striatum, and cortex in nerve-injured Thap1+/- mice revealed altered energy metabolism compared to naive Thap1+/- and nerve-injured wildtype mice. These findings suggest that abnormal energy metabolism in the cerebellum, striatum, and cortex may contribute to the dystonic features observed in nerve-injured Thap1+/- mice.

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Project description:This SuperSeries is composed of the SubSeries listed below.

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