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Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy

ABSTRACT: Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy

PROVIDER: PRJNA857697 | ENA |

REPOSITORIES: ENA

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			Action	DRS
		Other
	SRR20079702_1.fastq.gz	Fastqsanger.gz
	SRR20079702_2.fastq.gz	Fastqsanger.gz
	SRR20079703_1.fastq.gz	Fastqsanger.gz
	SRR20079703_2.fastq.gz	Fastqsanger.gz

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Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [scRNA-seq]

Project description:Glaucoma is an optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs) and visual loss. Previous studies have reported that the variation of the ATP-binding cassette transporter 1 (ABCA1) gene is linked to a higher risk of glaucoma in humans, but the pathological mechanisms remain unknown. Here we report that ABCA1 loss, especially in astrocytes, causes optic neuropathy. ABCA1 was mainly expressed in astrocytes rather than neurons, and that knockout of Abca1 gene under GFAP promoter (Glia-KO) caused age-associated RGC degeneration and ocular dysfunction without affecting intraocular pressure, a major risk factor for glaucoma. Glia-KO mice showed age-associated changes in astrocyte reactivity accompanied by the accumulation of cholesterol, a major substrate of ABCA1. Single-cell RNA sequencing revealed that Abca1 deficiency causes astrocyte-triggered inflammation and increased sensitivity of RGCs against excitotoxicity. Altogether, these findings suggest that astrocytic dysfunction caused by ABCA1 loss triggers age-associated optic neuropathy-like pathology.

2022-07-11 | GSE207929 | GEO

Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [bulkRNA-seq]

2022-07-11 | GSE207928 | GEO

Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [scRNA-seq]

Project description:Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [scRNA-seq]

| PRJNA857703 | ENA

Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [bulkRNA-seq]

Project description:Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy [bulkRNA-seq]

| PRJNA857704 | ENA

Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy.

Project description:Astrocyte abnormalities have received great attention for their association with various diseases in the brain but not so much in the eye. Recent independent genome-wide association studies of glaucoma, optic neuropathy characterized by retinal ganglion cell (RGC) degeneration, and vision loss found that single-nucleotide polymorphisms near the ABCA1 locus were common risk factors. Here, we show that Abca1 loss in retinal astrocytes causes glaucoma-like optic neuropathy in aged mice. ABCA1 was highly expressed in retinal astrocytes in mice. Thus, we generated macroglia-specific Abca1-deficient mice (Glia-KO) and found that aged Glia-KO mice had RGC degeneration and ocular dysfunction without affected intraocular pressure, a conventional risk factor for glaucoma. Single-cell RNA sequencing revealed that Abca1 deficiency in aged Glia-KO mice caused astrocyte-triggered inflammation and increased the susceptibility of certain RGC clusters to excitotoxicity. Together, astrocytes play a pivotal role in eye diseases, and loss of ABCA1 in astrocytes causes glaucoma-like neuropathy.

| S-EPMC9635836 | biostudies-literature

Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy

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

2022-07-11 | GSE207930 | GEO

Mitochondrial transfer of the mutant human ND6T14484C gene causes visual loss and optic neuropathy

Project description:In this study we investigated the effects of mutant human ND6 on mouse optic nerves

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Mitochondrial transfer of the mutant human ND6T14484C gene causes visual loss and optic neuropathy

Project description:Mitochondrial transfer of the mutant human ND6T14484C gene causes visual loss and optic neuropathy

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Mitochondrial Lipid Profiles in Traumatic Optic Neuropathy

Project description:C57Bl/6J Mice were exposed to sonication to induce a traumatic optic neuropathy model. Optic nerves were harvested and mitochondrial isolation was performed. Lipids were then extracted from isolated mitochondria. Mass spectrometry was used to analyze mitochondrial lipids.

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Project description:The genetic defects leading to optic atrophy range from mitochondrial DNA (mtDNA) point mutations in LeberÃ¢Â€Â™s hereditary optic neuropathy (LHON), to dominant and recessive mutations affecting a cluster of nuclear genes implicated in mitochondrial dynamics. We performed WES in patients with an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mitochondrial DNA (mtDNA) depletion without accumulation of multiple deletions, to identify the genetic causes of this syndrome.

| EGAS00001003850 | EGA

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