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CHCHD10 gene KO effect in iPSC drived motor neurons

ABSTRACT: CHCHD10 gene KO effect in iPSC drived motor neurons

PROVIDER: PRJNA552477 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR9640410.fastq.gz	Fastqsanger.gz
	SRR9640411.fastq.gz	Fastqsanger.gz
	SRR9640412.fastq.gz	Fastqsanger.gz
	SRR9640413.fastq.gz	Fastqsanger.gz
	SRR9640404.fastq.gz	Fastqsanger.gz

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Dose-dependent CHCHD10 dysregulation affects motor neuron disease severity and creatine metabolism

Project description:Dominant defects in CHCHD10, a mitochondrial intermembrane space protein, lead to a range of neurological and muscle phenotypes including amyotrophic lateral sclerosis. Many patients present with spinal muscular atrophy Jokela type (SMAJ), which is caused by a heterozygous p.G66V variant. While most disease variants lead to aggregation of CHCHD10 and activation of proteotoxic stress responses, the pathogenic mechanisms of the p.G66V variant have been less investigated. We report here the first homozygous CHCHD10 patient, with variant p.G66V. We compare the metabolic findings in heterozygous and homozygous SMAJ patient skin fibroblasts, and in motor neurons differentiated from patient-specific stem cells as well as a novel mouse model of SMAJ. Our findings show that p.G66V variant leads to dose-depended reduction of the CHCHD10 protein in a cell type specific manner. In addition, CHCHD10 p.G66V dysregulates energy metabolism, leading to altered redox balance and energy buffering by creatine metabolism.

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Effects of CHCHD10 G58R and S59L mutations on global gene expression in the presence and absence of OMA1

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iPSC derived motor neuron cultures from C9ORF72 carriers

Project description:Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9ORF72 gene are the most common cause of the familial form of ALS (C9-ALS), as well as frontotemporal lobar degeneration and other neurological diseases. How the repeat expansion causes disease remains unclear, with both loss of function (haploinsufficiency) and gain of function (either toxic RNA or protein products) proposed. We report a cellular model of C9-ALS with motor neurons differentiated from induced pluripotent stem cells (iPSCs) derived from ALS patients carrying the C9ORF72 repeat expansion. No significant loss of C9ORF72 expression was observed, and knockdown of the transcript was not toxic to cultured human motor neurons. Transcription of the repeat was increased, leading to accumulation of GGGGCC repeat–containing RNA foci selectively in C9-ALS iPSC-derived motor neurons. Repeat-containing RNA foci colocalized with hnRNPA1 and Pur-?, suggesting that they may be able to alter RNA metabolism. C9-ALS motor neurons showed altered expression of genes involved in membrane excitability including DPP6, and demonstrated a diminished capacity to fire continuous spikes upon depolarization compared to control motor neurons. Antisense oligonucleotides targeting the C9ORF72 transcript suppressed RNA foci formation and reversed gene expression alterations in C9-ALS motor neurons. These data show that patient-derived motor neurons can be used to delineate pathogenic events in ALS. Transcriptome profiling from iPSC derived motor neurons compared to controls

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2025-11-07 | PXD064045 | Pride

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