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ABSTRACT: Adenine base editing in mouse embryos and an adult mouse model of Duchenne muscular dystrophy

PROVIDER: PRJNA451048 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR7042850_1.fastq.gz	Fastqsanger.gz
	SRR7042850_2.fastq.gz	Fastqsanger.gz
	SRR7042860_1.fastq.gz	Fastqsanger.gz
	SRR7042860_2.fastq.gz	Fastqsanger.gz
	SRR7042870_1.fastq.gz	Fastqsanger.gz

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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.

2023-07-20 | GSE235673 | GEO

Jarrah2014 - mathematical model of the immune response in muscle degeneration and subsequent regeneration in Duchenne muscular dystrophy in mdx mice

Project description:Duchenne muscular dystrophy (DMD) is a genetic disease that results in the death of affected boys by early adulthood.The genetic defect responsible for DMD has been known for over 25 years, yet at present there is neither cure nor effective treatment for DMD. During early disease onset, the mdx mouse has been validated as an animal model for DMD and use of this model has led to valuable but incomplete insights into the disease process. For example, immune cells are thought to be responsible for a significant portion of muscle cell death in the mdx mouse; however, the role and time course of the immune response in the dystrophic process have not been well described. In this paper we constructed a simple mathematical model to investigate the role of the immune response in muscle degeneration and subsequent regeneration in the mdx mouse model of Duchenne muscular dystrophy. Our model suggests that the immune response contributes substantially to the muscle degeneration and regeneration processes. Furthermore, the analysis of the model predicts that the immune system response oscillates throughout the life of the mice, and the damaged fibers are never completely cleared.

2024-09-02 | BIOMD0000001015 | BioModels

Proteome analysis of skeletal muscle samples from a porcine model of Duchenne muscular dystrophy treated by somatic gene editing

Project description:Duchenne muscular dystrophy (DMD) is caused by genetic deficiency of dystrophin and characterized by massive structural and functional changes of skeletal muscle tissue, leading to terminal muscle failure. In this project, proteomics data from skeletal muscle of a genetically engineered DMD pig model treated by somatic gene editing are shown.

2020-02-05 | PXD014893 | Pride

Humans mice

Project description:Adenine base editing in an adult mouse model of tyrosinemia

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Project description:Single-Swap Base Editing for the Correction of Common Duchenne Muscular Dystrophy Mutations

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A scalable, clinically severe pig model for Duchenne muscular dystrophy

Project description:Large animal models for Duchenne muscular dystrophy (DMD) are indispensible for preclinical evaluation of novel diagnostic procedures and treatment strategies. To evaluate functional consequences of Duchenne muscular dystrophy (DMD) in skeletal muscle and myocardium, we used a new genetically engineered dystrophin KO pig model displaying hallmarks of human DMD. Heart and skeletal muscle tissue samples of DMD pigs and wild-type (WT) controls at three different ages were analyzed by label-free proteomics.

2021-12-01 | PXD027772 | 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

Homo sapiens

Project description:Human iPSC-based model for Duchenne muscular dystrophy

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Project description:In vivo adenine base editing in an adult mouse model of tyrosinemia

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miR-206 modulates the pathogenesis of muscular dystrophy of mdx mice

Project description:In response to skeletal muscle injury, adult myogenic stem cells, known as satellite cells, are activated and undergo proliferation and differentiation to regenerate new muscle fibers. The skeletal muscle-specific microRNA, miR-206, is up-regulated in satellite cells following muscle injury, but its role in muscle regeneration has not been defined. Here we show that skeletal muscle regeneration in response to cardiotoxin injury is impaired in mice lacking miR-206. Loss of miR-206 also accelerates and exacerbates the dystrophic phenotype of mdx mice, a model for Duchenne muscular dystrophy. MiR-206 promotes satellite cell differentiation and fusion to form multinucleated myofibers by suppressing a collection of negative regulators of myogenesis. Our findings reveal an essential role for miR-206 in satellite cell differentiation during skeletal muscle regeneration and as a modulator of Duchenne muscular dystrophy. total RNA obtained from TA muscle of mdx and 3 miR-206 KO; mdx mice at 3 months of age.

2012-04-30 | E-GEOD-36077 | biostudies-arrayexpress

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