Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy

ABSTRACT: Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy

PROVIDER: PRJNA1088121 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR28347826_1.fastq.gz	Fastqsanger.gz
	SRR28347826_2.fastq.gz	Fastqsanger.gz
	SRR28347827_1.fastq.gz	Fastqsanger.gz
	SRR28347827_2.fastq.gz	Fastqsanger.gz
	SRR28347828_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 46

Similar Datasets

Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease caused by ectopic expression of the toxic protein DUX4, resulting in muscle weakness. However, the mechanism by which DUX4 exerts its toxicity remains unclear. In this study, we observed abnormal iron accumulation in muscles of patients with FSHD and in muscle-specific DUX4-expressing (DUX4-Tg) mice. Treatment with iron chelators, an iron-deficient diet, and genetic modifications inhibiting intracellular uptake of iron did not improve but rather exacerbated FSHD pathology in DUX4-Tg mice. Unexpectedly, however, iron supplementation, either from a high-iron diet or intravenous iron administration, resulted in remarkable improvement in grip strength and running performance in DUX4-Tg mice. Iron supplementation suppressed abnormal iron accumulation and the ferroptosis-related pathway involving increased lipid peroxidation in DUX4-Tg muscle. Muscle-specific DUX4 expression led to retinal vasculopathy, a part of FSHD pathology, which was prevented by iron administration. Furthermore, high-throughput compound screening of the ferroptosis pathway identified drug candidates including Ferrostatin-1 (Fer-1), a potent inhibitor of lipid peroxidation. Treatment with Fer-1 dramatically improved physical function in DUX4-Tg mice. Our findings demonstrate that DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway and that supplementary iron could be a promising and readily available therapeutic option for FSHD.

2025-03-31 | GSE261617 | GEO

Facioscapulohumeral Muscular Dystrophy (FSHD): Wellstone Study

Project description:Facioscapulohumeral Muscular Dystrophy (FSHD): Wellstone Study

| PRJNA731943 | ENA

Transcription profiling of human Facioscapulohumeral muscular dystrophy (FSHD) muscle profiles

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, we intend to identify disease-specific changes which are more likely to be involved in the early stages of the disease progression. The data will help to identify pathological mechanisms involved in FSHD. Experiment Overall Design: Comparison of the profiles of FSHD to 13 other conditions for disease-specific changes. The 13 conditions are NHM (Normal healthy muscle) n=15; JDM (Juvenile dermatomyositis) n=25; HSP (Human spastic paraplegia) n=4; FSHD (facioscapulohumeral dystrophy) unaffected n=5, affected n=9; FKRP (Fukutin related protein deficiency) n=7; ED-L (Emery-Dreifuss muscular dystrophy, lamin A/C deficiency) n=4; ED-E (Emery-Dreifuss muscular dystrophy, emerin deficiency) n=4; DYSF (dysferlinopathy) n=10; DMD (Duchenne Muscular Dystrophy) n=10; CALP (Calpain-3 deficiency) n=10; BMD (Becker Muscular Dystrophy) n=5; AQM (Acute quadriplegic myopathy) n=5; ALS (Amyotrophic lateral sclerosis) n=9.

2008-06-16 | E-GEOD-9397 | biostudies-arrayexpress

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

2012-09-19 | GSE36398 | GEO

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. In order to develop mRNA-based biomarkers of affected muscles, we used GeneChip Gene 1.0 ST arrays for global analysis of gene expression in muscle biopsy specimens obtained from FSHD subjects and their unaffected first degree relatives. FSHD typically affects biceps muscles more severely than deltoid muscles. To examine muscle-specific expression changes associated with FSHD while controlling for background genetic variation, we analyzed RNA extracted from both biceps and deltoids of FSHD subjects and unaffected first-degree relatives.

2012-09-19 | E-GEOD-36398 | biostudies-arrayexpress

P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy

Project description:P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy

| PRJNA641972 | ENA

Aerobic Exercise Improves Molecular and Functional Deficits in A Murine Model of Facioscapulohumeral Muscular Dystrophy

Project description:We investigated the effects of six weeks of voluntary wheel running in heterozygous B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj/J (FLExDUX4) mouse model of Facioscapulohumeral Muscular Dystrophy (FSHD) and their wild type (WT) littermates to characterize the structural/functional adaptations to voluntary wheel running and their molecular foundations using RNA sequencing

2023-12-01 | GSE233340 | GEO

single-cell RNA sequencing in patient-derived primary myocytes for facioscapulohumeral muscular dystrophy

Project description:Facioscapulohumeral muscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4 in skeletal muscle. We employed single-cell RNA-sequencing, combined with pseudotime trajectory modeling, to study FSHD disease etiology and cellular progression in human primary myocytes. We identified a small FSHD-specific cell population in all tested patient-derived cultures and detected new genes associated with DUX4 de-repression. We furthermore generated an FSHD cellular progression model, reflecting both the early burst-like DUX4 expression as well as the downstream activation of various FSHD-associated pathways, which allowed us to correlate DUX4 expression signature dynamics with that of regulatory complexes, thereby facilitating the prioritization of epigenetic targets for DUX4 silencing.

2018-12-03 | GSE122873 | GEO

miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies

Project description:miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies

| PRJNA740321 | ENA

single-cell RNA sequencing in patient-derived primary myocytes for facioscapulohumeral muscular dystrophy

Project description:single-cell RNA sequencing in patient-derived primary myocytes for facioscapulohumeral muscular dystrophy

| PRJNA506727 | ENA