Medical research

CRISPR halts Duchenne muscular dystrophy progression in dogs

Scientists for the first time have used CRISPR gene editing to halt the progression of Duchenne muscular dystrophy (DMD) in a large mammal, according to a study by UT Southwestern that provides a strong indication that a ...

Medical research

Duchenne muscular dystrophy is a stem cell disease

A new study from The Ottawa Hospital and the University of Ottawa is poised to completely change our understanding of Duchenne muscular dystrophy and pave the way for far more effective treatments.

Genetics

Genetic editing shows promise in Duchenne muscular dystrophy

Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from ...

Neuroscience

When nerve meets muscle, biglycan seals the deal

A protein that has shown early promise in preventing the loss of muscle function in mouse models of Duchenne muscular dystrophy, has been found in a new study to be a key player in the process of joining nerves to muscles.

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Dystrophin

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex. Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere.

The Dystrophin gene is the longest human gene known on DNA level, covering 2.4 megabases (0.08% of the human genome) at locus Xp21. However, it does not encode the longest protein known in humans, which is titin. The primary transcript measures about 2,400 kilobases and takes 16 hours to transcribe; the mature mRNA measures 14.0 kilobases. The 79 exons code for a protein of over 3500 amino acid residues.

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