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Mouse Models for Muscular Dystrophy

ABSTRACT: Comparative analysis of gene expression levels from hindlimb muscle tissue from 8 week old mouse models for muscular dystrophy. We have used mouse models with dystrophin-, sarcoglycan-, sarcospan-, or dysferlin-deficiency. Keywords = muscular dystrophy Keywords: other

ORGANISM(S): Mus musculus

PROVIDER: GSE2112 | GEO | 2005/11/24

SECONDARY ACCESSION(S): PRJNA91769

REPOSITORIES: GEO

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Mouse Models for Muscular Dystrophy

Project description:Comparative analysis of gene expression levels from hindlimb muscle tissue from 8 week old mouse models for muscular dystrophy. We have used mouse models with dystrophin-, sarcoglycan-, sarcospan-, or dysferlin-deficiency. Keywords = muscular dystrophy

2010-06-06 | E-GEOD-2112 | biostudies-arrayexpress

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2021-12-01 | PXD027772 | Pride

Cardiac response to thromboxane-prostanoid receptor antagonism in a mouse model of muscular dystrophy

Project description:Expression analysis of left ventricle taken from wildtype or delta-sarcoglycan knockout mice, a model of muscular dystrophy. Mice were treated from weaning with vehicle or the thromboxane-prostanoid (TP) receptor antagonist ifetroban. Results provide insight into effects of TP receptor antagonism on cardiomyopathy of muscular dystrophy.

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Minimal expression of dysferlin prevents development of muscular dystrophy in dysferlin exon 40a knockout mice

Project description:Dysferlin is an essential muscle membrane repair protein and autosomal recessive mutations in its gene result in progressive muscular dystrophies collectively called dysferlinopathies. We previously showed that calpain-mediated cleavage within dysferlin exon 40a releases a 72kDa C-terminal minidysferlin recruited to injured sarcolemma. In the current study, we hypothesised that knocking out exon 40a will lead to defective membrane repair and development of muscular dystrophy over time. To address this hypothesis, we created three exon 40a knockout (40aKO) mouse lines with dysferlin protein levels ranging from ~80% of wildtype (WT) in 40aKO-3, ~50% in 40aKO-2 and ~10-20% in 40aKO-1 mice. Histopathological analysis of skeletal muscles harvested from all 12-month-old 40aKO mice showed little evidence of dystrophic features seen in dysferlin-null BLAJ mice. Lipidomics analysis on 18wk old quadriceps showed that all 40aKO lines had a similar lipidomic profile to WT and distinct from BLAJs. The proteomic profile of 40aKO lines was intermediate between that of WT and BLAJs. Laser membrane damage assays showed normal membrane repair capacity in all three 40aKO lines. These results collectively indicate that ~10-20% of dysferlin protein expression is sufficient for maintenance of the lipidome and membrane repair capacity, and crucially prevents development of muscular dystrophy.

2023-03-11 | PXD035393 | Pride

Minimal expression of dysferlin prevents development of muscular dystrophy in dysferlin exon 40a knockout mice (second dataset)

2023-03-11 | PXD035918 | Pride

Targeting Duchenne Muscular Dystrophy by Skipping DMD Exon 45 with Base Editors

Project description:Duchenne muscular dystrophy is an X-linked monogenic disease caused by mutations in the dystrophin gene (DMD) and characterized by progressive muscle weakness leading to loss of ambulation and significantly decreased life expectancy. Since the current standard of care for Duchenne muscular dystrophy is to merely treat symptoms, there is a dire need for novel treatment modalities that can correct the underlying genetic mutations. While several gene replacement therapies are being explored in clinical trials, one emerging approach that can directly correct mutations in genomic DNA is base editing. We have recently developed CRISPR-SKIP, a base editing strategy to induce permanent exon skipping by introducing C>T or A>G mutations at splice acceptors in genomic DNA, which can be utilized therapeutically to recover dystrophin expression when a genomic deletion leads to an out-of-frame DMD transcript. We now demonstrate that CRISPR-SKIP can be adapted to correct some forms of Duchenne muscular dystrophy by disrupting the splice acceptor in human DMD exon 45 with high efficiency, which enables open reading frame recovery and restoration of dystrophin expression. We also demonstrate that AAV-delivered split-intein base editors edit the splice acceptor of DMD exon 45 in cultured human cells and in vivo, highlighting the therapeutic potential of this strategy.

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Deletion of DMD exon 52 in the pig results in fulminant muscular dystrophy

Project description:Duchenne muscular dystrophy (DMD) is caused by mutations in the X-linked dystrophin (DMD) gene. The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death. To establish a tailored large animal model of DMD, we deleted DMD exon 52 in male pig cells by gene targeting and generated offspring by nuclear transfer. DMD pigs exhibit absence of dystrophin in skeletal muscles, increased serum creatine kinase levels, progressive dystrophic changes of skeletal muscles, impaired mobility, muscle weakness, and a maximum life span of 3 months due to respiratory impairment. To address the accelerated development of muscular dystrophy in DMD pigs as compared to human patients, we performed a genome-wide transcriptome study of M. biceps femoris samples from 2-day-old and 3-month-old DMD and age-matched wild-type pigs. The transcriptome changes in 3-month-old DMD pigs were in good accordance with the findings of gene expression profiles in human DMD, reflecting the processes of degeneration, regeneration, inflammation, fibrosis, and impaired metabolic activity. The transcriptome profile of 2-day-old DMD pigs pointed towards increased protein and DNA catabolism, reduced extracellular matrix formation and cell proliferation and showed similarities with transcriptome changes induced by exercise injury in muscle. Our transcriptome studies provide new insights into congenital changes associated with dystrophin deficiency and secondary complications arising during postnatal development. Thus the DMD pig is a useful model to determine the hierarchy of physiological derangements in dystrophin-deficient muscle. 13 samples, two conditions, two age-groups, 3-4 biological replicates

2013-08-06 | E-GEOD-44096 | biostudies-arrayexpress

Full-length dystrophin restoration via targeted genomic integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy

Project description:This study applies targeted Cas9-based gene insertion strategies for the correction of full-length dystrophin in a pre-clinical humanized mouse model of Duchenne muscular dystrophy. Following intramuscular or intravenous delivery, full-length dystrophin is restored in skeletal and cardiac muscle.

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Proteome analysis of skeletal muscle samples from a porcine model of Duchenne muscular dystrophy

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2020-01-09 | PXD016003 | Pride

Gene expression profiles using microarrays in diaphragm of normal Beagle dogs and Beagle-based canine muscular dystrophy (CXMDJ) before and 1 hour after initial respiration.

Project description:Canine muscular dystrophy (CXMDJ) is a dog model of the lethal X-linked muscle disorder Duchenne muscular dystrophy (DMD), which is caused by loss of dystrophin. Gene expression profile was analyzed in the diaphragm muscles of normal Beagle dogs and CXMDJ before and 1 hour after initial respiration.

2012-10-31 | GSE32460 | GEO

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