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Uncovering Modifier Genes of X-linked Alport Syndrome Using a Novel Multi-parent Mouse Model

ABSTRACT: Uncovering Modifier Genes of X-linked Alport Syndrome Using a Novel Multi-parent Mouse Model

PROVIDER: PRJNA611591 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR11273200.fastq.gz	Fastqsanger.gz
	SRR11273300.fastq.gz	Fastqsanger.gz
	SRR11273201.fastq.gz	Fastqsanger.gz
	SRR11273301.fastq.gz	Fastqsanger.gz
	SRR11273202.fastq.gz	Fastqsanger.gz

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Uncovering Modifier Genes of X-linked Alport Syndrome Using a Novel Multi-parent Mouse Model

Project description:RNAseq of mouse kidney RNA from Col4a5 muntant mice crossed with diversity ourbred mice to find modifier genes of Alport disease.

2020-03-10 | GSE146660 | GEO

Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model.

Project description:BackgroundMutations in COL4A5 are responsible for 80% of cases of X-linked Alport Syndrome (XLAS). Although genes that cause AS are well characterized, people with AS who have similar genetic mutations present with a wide variation in the extent of kidney impairment and age of onset, suggesting the activities of modifier genes.MethodsWe created a cohort of genetically diverse XLAS male and female mice using the Diversity Outbred mouse resource and measured albuminuria, GFR, and gene expression. Using a quantitative trait locus approach, we mapped modifier genes that can best explain the underlying phenotypic variation measured in our diverse population.ResultsGenetic analysis identified several loci associated with the variation in albuminuria and GFR, including a locus on the X chromosome associated with X inactivation and a locus on chromosome 2 containing Fmn1. Subsequent analysis of genetically reduced Fmn1 expression in Col4a5 knockout mice showed a decrease in albuminuria, podocyte effacement, and podocyte protrusions in the glomerular basement membrane, which support the candidacy of Fmn1 as a modifier gene for AS.ConclusionWith this novel approach, we emulated the variability in the severity of kidney phenotypes found in human patients with Alport Syndrome through albuminuria and GFR measurements. This approach can identify modifier genes in kidney disease that can be used as novel therapeutic targets.

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Osteopontin Deficiency Amerliorates Alport Kindey Pathology

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Effects of endothelin A receptor blockade on renal interstitial disease in Alport mice

Project description:Total RNA was isolated from renal cortex from wild type and and alport mice given sitaxentan or vehicle from 2 to 7 weeks of age. RNA was analyzed by real time RT-PCR using the Qiagen Mouse Fibrosis PCR Array according to the manufacturer's instructions.

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Dual inhibition of the endothelin and angiotensin receptor ameliorates renal and inner ear pathologies in Alport mice

Project description:Alport syndrome, a type IV collagen disorder, leads to glomerular disease and, in some patients, hearing loss. AS is treated with inhibitors of the renin-angiotensin system; however, a need exists for novel therapies, especially those addressing both major pathologies. Sparsentan is a single-molecule dual endothelin type-A and angiotensin II type 1 receptor antagonist (DEARA) under clinical development for focal segmental glomerulosclerosis and IgA nephropathy. We report the ability of sparsentan to ameliorate both renal and inner ear pathologies in an autosomal-recessive Alport mouse model. Sparsentan significantly delayed onset of glomerulosclerosis, interstitial fibrosis, proteinuria, and glomerular filtration rate decline. Sparsentan attenuated glomerular basement membrane defects, blunted mesangial filopodial invasion into the glomerular capillaries, increased lifespan more than losartan, and lessened changes in profibrotic/proinflammatory genes pathways in both the glomerular and renal cortical compartments. Notably, treatment with sparsentan, but not losartan, prevented accumulation of extracellular matrix in the strial capillary basement membranes in the inner ear and reduced susceptibility to hearing loss. Improvements in lifespan and in renal and strial pathology were observed even when sparsentan was initiated after development of renal pathologies. These findings suggest that sparsentan may address both renal and hearing pathologies in Alport syndrome patients.

2023-07-03 | GSE228756 | GEO

Patient-derived podocyte spheroids reveals new insights into the etiopathogenesis of Alport Syndrome

Project description:Alport syndrome (AS) is a rare disease characterized by defective glomerular basement membranes, caused by mutations in COL4A3, COL4A4 and COL4A5, which synthesize collagen type IV. Patients present with progressive proteinuria, hematuria and podocyte loss. There is currently no cure for AS, and this is mainly due to its complex and variable pathogenesis, as well as the lack of models that can faithfully mimic the human phenotype.

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