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

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

PROVIDER: PRJNA622544 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR11465538_1.fastq.gz	Fastqsanger.gz
	SRR11465538_2.fastq.gz	Fastqsanger.gz
	SRR11465539_1.fastq.gz	Fastqsanger.gz
	SRR11465539_2.fastq.gz	Fastqsanger.gz
	SRR11465540_1.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.

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

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Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy

Project description:Astrocytic dysfunction induced by ABCA1 deficiency causes optic neuropathy

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

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

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

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

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Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

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.

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EAE Optic Nerve Injections with LPC 18:1 (iTRAQ)

Project description:EAE mice were injected with LPC 18:1 at the optic nerve when they exhibited a clinical score of 2. Visual function was assessed via pattern electroretinogram and optic nerves were harvested 12 days post optic nerve injection. Three different visual recovery pathways were observed: 1) No-injection control (no recovery in visual function), 2) Low recovery visual function, 3) High recovery visual function and 4) No change in visual function.

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Mitochondrial Transfer of the Mutant Human <i>ND6T14484C</i> Gene Causes Visual Loss and Optic Neuropathy.

Project description:PurposeTo evaluate the long-term effects of mitochondrial gene transfer of mutant human NADH ubiquinone oxidoreductase subunit VI (hND6T14484C) in the mouse eye.MethodsAdult mice were injected intravitreally with mitochondrial-targeted adeno-associated virus carrying either hND6T14484C or mitochondrial encoded mCherry. The delivery and expression of the interest gene were detected by polymerase chain reaction (PCR), quantitative PCR (qPCR), and immunostaining. The pathologic effects of the mutant gene in live mice were assessed with RNA-seq, serial spectral domain optical coherence tomography (SD-OCT), and pattern electroretinogram (PERG).ResultsDelivered hND6 was found 30-fold greater than endogenous mouse ND6 in microdissected retinal ganglion cells of hND6 -injected mice. Compared to controls injected with mCherry, PERG amplitude of hND6 mice dropped significantly at 3 (P = 0.0023), 6 (P = 0.0058), and 15 (P = 0.031) months after injection. SD-OCT revealed swelling of the optic nerve head followed by the progressive retinal and optic nerve atrophy in hND6 mice. Furthermore, RNA-seq data showed a change in 381 transcripts' expression in these mice compared to mCherry mice. Postmortem analysis showed hND6 mice had marked atrophy of the entire optic nerve, from the globe to the optic chiasm, and a significant loss of retinal ganglion cells compared to age-matched control mice (P = 1.7E-9).ConclusionsDelivered hND6T14484C induces visual loss and optic neuropathy in mice, the hallmarks of human Leber's hereditary optic neuropathy (LHON).Translational relevanceResults from this study will help establish a novel strategy not only to generate an LHON animal model but also to provide a potential to treat this or any other mitochondrial diseases.

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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.

2020-03-09 | ST001327 | MetabolomicsWorkbench

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