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ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism

ABSTRACT: ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism

PROVIDER: PRJNA1037158 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR26731000_1.fastq.gz	Fastqsanger.gz
	SRR26731000_2.fastq.gz	Fastqsanger.gz
	SRR26730991_1.fastq.gz	Fastqsanger.gz
	SRR26730991_2.fastq.gz	Fastqsanger.gz
	SRR26730992_1.fastq.gz	Fastqsanger.gz

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ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism

Project description:ABCA7 loss-of-function variants are associated with increased risk of Alzheimer’s disease (AD). Using ABCA7 knockout human iPSC models generated with CRISPR/Cas9, we investigated the impacts of ABCA7 deficiency on neuronal metabolism and function. Lipidomics revealed that mitochondria-related phospholipids, such as phosphatidylglycerol and cardiolipin were reduced in the ABCA7-deficient iPSC-derived cortical organoids. Consistently, ABCA7 deficiency induced alterations of mitochondrial morphology accompanied by reduced ATP synthase activity and exacerbated oxidative damage in the organoids.

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SNUPN deficiency causes splicing and mRNA expression dysregulation in primary dermal fibroblasts.

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Impairment of lipid homeostasis causes lysosomal accumulation of endogenous protein aggregates through ESCRT disruption

Project description:Protein aggregation increases during aging and is a pathological hallmark of many age-related diseases. Protein homeostasis (proteostasis) depends on a core network of factors directly influencing protein production, folding, trafficking, and degradation. Cellular proteostasis also depends on the overall composition of the proteome and numerous environmental variables. Modulating this cellular proteostasis state can influence the stability of multiple endogenous proteins, yet the factors contributing to this state remain incompletely characterized. Here, we performed genome-wide CRISPRi screens to elucidate the modulators of proteostasis state in mammalian cells, using a fluorescent dye to monitor endogenous protein aggregation. These screens recovered components of the known proteostasis network, and uncovered a link between protein and lipid homeostasis. We showed that increased lipid uptake and/or disrupted lipid metabolism led to increased lysosomal, detergent-insoluble protein aggregates and, concomitantly, accumulation of sphingomyelins and cholesterol esters. Proteomic analysis of lysosomes revealed ESCRT accumulation at the lysosomes, suggesting disruption of ESCRT disassembly, lysosomal membrane repair, and microautophagy. Lipid dysregulation leads to lysosomal membrane permeabilization, but does not otherwise impact fundamental aspects of lysosomal and proteasomal functions. Together, these results demonstrate that lipid dysregulation impairs proteostasis via ESCRT disruption, potentially as a result of modified membrane properties.

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