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Profiling the genomic binding of DAXX in C9HRE ALS/FTD patient cells

ABSTRACT: Profiling the genomic binding of DAXX in C9HRE ALS/FTD patient cells

PROVIDER: PRJNA925933 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR23172758_1.fastq.gz	Fastqsanger.gz
	SRR23172758_2.fastq.gz	Fastqsanger.gz
	SRR23172759_1.fastq.gz	Fastqsanger.gz
	SRR23172759_2.fastq.gz	Fastqsanger.gz
	SRR23172760_1.fastq.gz	Fastqsanger.gz

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Profiling the genomic binding of DAXX in C9HRE ALS/FTD patient cells

Project description:Using ChIP-seq to profile the genomic binding of DAXX in control and C9HRE ALS/FTD patient B lymphocytes.

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The regulative role of DAXX in the gene expression in C9HRE ALS/FTD patient motor neurons

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ATAC-Seq analysis of the chromatin accessibilities in C9HRE ALS/FTD patient cells

Project description:ATAC-seq was utilized to profile the chromatin status in ALS/FTD patient cells carrying the hexanuleotide repeat expansion in C9orf72.

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The regulative role of DAXX in the gene expression in C9HRE ALS/FTD patient motor neurons

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Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS

Project description:Dysregulation of RNA processing contributes to neurodegenerative diseases, especially amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Expansion of an intronic (GGGGCC)n repeat within the C9ORF72 gene is the most common cause of both FTD and ALS (C9-FTD/ALS), characterized with aberrant repeat RNA foci in the nucleus and noncanonical translation-produced dipeptide repeat (DPR) protein inclusions in the cytoplasm. Here we elucidate that the (GGGGCC)n repeat RNA co-localizes with nuclear speckles and alters their phase separation properties and granule dynamics. Moreover, the essential nuclear speckle scaffold protein SRRM2 is sequestered into the poly-GR cytoplasmic inclusions in C9-FTD/ALS mouse model and patient postmortem tissues, exacerbating the nuclear speckle dysfunction. Impaired nuclear speckle integrity induces global exon-skipping and intron retention in human iPSC-derived neurons. Similar alternative splicing changes can be found in patient postmortem tissues. This work identified novel molecular mechanism of global RNA splicing defects by impaired nuclear speckle function in C9-FTD/ALS and revealed novel potential biomarkers or therapeutic targets.

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Neuronal polyunsaturated fatty acids are protective in FTD/ALS

Project description:We report a conserved transcriptomic signature of reduced fatty acid and lipid metabolism gene expression in human post-mortem ALS spinal cord and a Drosophila model of the most common genetic cause of FTD/ALS, a repeat expansion in C9orf72. To investigate lipid alterations, we performed lipidomics on C9FTD/ALS iPSC-neurons and post-mortem FTLD brain tissue. This revealed a common and specific reduction in phospholipid species containing polyunsaturated fatty acids (PUFAs). To determine whether this PUFA deficit contributes to neurodegeneration, we fed C9FTD/ALS flies PUFAs, which yielded a modest increase in survival. However, increasing PUFA levels specifically in neurons of the C9orf72 flies, by overexpressing fatty acid desaturase enzymes, led to a substantial extension of lifespan. Neuronal overexpression of fatty acid desaturases also suppressed stressor induced neuronal death in C9FTD/ALS patient iPSC-neurons. These data implicate neuronal fatty acid saturation in the pathogenesis of FTD/ALS and suggest that interventions to increase PUFA levels specifically within neurons will be beneficial.

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Single cell RNA-sequencing of long-term human control and C9ORF72 ALS/FTD patient-specific iPSC-derived cortical organoid slice cultures

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