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Multiomics approach reveal novel insights in FUS driven Juvenile Amyotrophic Lateral Sclerosis: a family quartet analysis

ABSTRACT: Multiomics approach reveal novel insights in FUS driven Juvenile Amyotrophic Lateral Sclerosis: a family quartet analysis

PROVIDER: PRJNA974441 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR24660755_1.fastq.gz	Fastqsanger.gz
	SRR24660755_2.fastq.gz	Fastqsanger.gz
	SRR24660756_1.fastq.gz	Fastqsanger.gz
	SRR24660756_2.fastq.gz	Fastqsanger.gz
	SRR24660757_1.fastq.gz	Fastqsanger.gz

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Multiomics approach reveal novel insights in FUS driven Juvenile Amyotrophic Lateral Sclerosis: a family quartet analysis

Project description:We have identified a novel de novo variation in FUS gene in a sporadic juvenile ALS patient. FUS is an RNA-binding protein actively involved in various aspect of nucleic acid metabolism. We performed RNA-seq to identify altered transcriptome in juvenile ALS.

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Project description:Amyotrophic lateral sclerosis type 6 (ALS6) is a familial subtype of ALS linked to Fused in Sarcoma (FUS) gene mutation. FUS mutations lead to decreased global protein synthesis, but the mechanism that drives this has not been established. Here, we used ALS6 patient-derived induced pluripotent stem cells (hIPSCs) to study the effect of the ALS6 FUSR521H mutation on the translation machinery in motor neurons (MNs). We find, in agreement with findings of others, that protein synthesis is decreased in ALS6 MNs. Furthermore, ALS6 MNs are more sensitive to oxidative stress and display reduced expression of TGF-β and mTORC gene pathways when stressed. Finally, we show that IFNγ treatment reduces apoptosis of ALS6 MNs exposed to oxidative stress and partially restores the translation rates in ALS6 MNs. Overall, these findings suggest that a functional IFNγ response is important for FUS-mediated protein synthesis, possibly by FUS nuclear translocation in ALS6.

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Identification of in vivo, conserved, FUS RNA binding sites and the impact of FUS on the neuronal transcriptome

Project description:FUS, an RNA binding protein was recently implicated in Amyotrophic Lateral Sclerosis (ALS). ALS is a fatal neurodegenerative disease. We report the identification of the conserved neuronal RNA targets of FUS and the assessment of the impact of FUS depletion on the neuronal transcriptome. We identified that FUS regulates splicing of conserved intron containing transcripts. FUS retains or excludes the conserved intron by binding to them. Identification of FUS neuronal targets using normal human brain samples and mouse neurons

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Amyotrophic lateral sclerosis

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