Sentences with phrase «with dystrophin»

Could this approach work with dystrophin exon skipping?

Not exact matches

Children with muscular dystrophy lack the gene required to regulate dystrophin, a protein for muscle growth and stability.

Duchenne muscular dystrophy is caused by problems with the body's ability to produce dystrophin, a long protein chain that binds the interior of a muscle fiber to its surrounding support structure.

In the study, researchers worked with a mouse model that has a debilitating mutation on one of the exons of the dystrophin gene.

Bottom row: skeletal muscle with restored dystrophin after application of the CRISPR / Cas9 platform.

They had been working with a worm model of Duchenne muscular dystrophy, a severe form of the disease that strikes young boys and is caused by mutations in the gene that encodes the dystrophin protein.

Duchenne typically occurs through one mutation in a gene called dystrophin, which makes a protein with the same name.

Mice treated with antisense RNA (bottom) produced more dystrophin — colored red in this image — than did control mice (top).

Experiments have shown treatment with sildenafil significantly improved heart function in mice missing the dystrophin protein.

Their study published online ahead of print in PNAS Early Edition suggests a new therapeutic strategy for patients with Duchene muscular dystrophy, a progressive neuromuscular condition, caused by a lack of dystrophin, that usually leaves patients unable to walk on their own by age 10 - 15.

The study authors previously found out that NF - κB is active in dystrophin - deficient muscle years before the onset of symptoms, suggesting that very early treatment of Duchenne Muscular Dystrophy patients with VBP15 may prevent or delay the onset of some clinical symptoms.

Children with DMD have a mutation that cripples the body's ability to produce a protein called dystrophin, which helps absorb the shock or energy that's created when a muscle contracts.

Using the natural human development process as a guide, the researchers developed ways to mature muscle cells in the laboratory to create muscle fibers that restore dystrophin, the protein that is missing in the muscles of boys with Duchenne.

The study is the first to show that damaged dystrophin underlies both genetic and acquired cardiomyopathy, says Jeffrey A. Towbin, a cardiologist with the Baylor College of Medicine and Texas Children's Hospital in Houston.

When they killed the animals a week later, they found that the virus had broken apart dystrophin in their hearts and that the membranes of heart cells infected with Coxsackie B virus were more permeable to blue dye than uninfected cells.

Muscles from mice treated with modified human stem cells show human dystrophin - producing muscle fibers (yellow) integrated among mouse muscle fibers (red).

After cultured rat heart cells were infected with the Coxsackie B virus, the amount of normal dystrophin declined within 3 days.

The team previously found that NF - κB is active in dystrophin - deficient muscle years before the onset of symptoms, suggesting that very early treatment of Duchenne muscular dystrophy patients with VBP15 may prevent or delay the onset of some clinical symptoms.

Lead investigators David Burns and Ken O'Halloran at University College Cork, in conjunction with collaborator labs at the University of Calgary and Trinity College Dublin, performed experiments in mice lacking dystrophin, the muscle protein that malfunctions in DMD.

In the absence of dystrophin, the polarity effector Par1b is dysregulated, leading to the failure of Par3 to become localized to the cortex associated with the basal lamina.

Patients with DMD lack dystrophin, a protein that gives muscle cells structure.

In a subsequent study, they used CRISPR with two gRNAs to delete exon 51 or exons 45 - 55 in patient myoblasts; when injected into DMD mice, these cells expressed functional dystrophin.

People with DMD do not make dystrophin, a protein that helps keep the muscles intact.

First, CRISPR would need to be delivered to both cardiac and skeletal muscle cells, where precision editing of the dystrophin gene would take place, with minimal risk of off - target editing.

In accordance with this result, Nelson et al. find that dystrophin restoration is maintained for at least six months.

They also described the gene's size and genetic deletions associated with disease, including a very large deletion of the gene coding for dystrophin found in a patient with mild disease.