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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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First clinical trial of gene therapy for muscular dystrophy lends insight into the disease

A clinical trial designed to replace the genetic defect causing the most common form of muscular dystrophy has uncovered an unexpected aspect of the disease. The trial, based on therapy designed by scientists at the University ...

Medicine & Health / Medical research

created Oct 06, 2010 | popularity 5 / 5 (1) | comments 0

New therapy substitutes missing protein in those with muscular dystrophy

Researchers at the University of Minnesota Medical School have discovered a new therapy that shows potential to treat people with Duchenne muscular dystrophy, a fatal disease and the most common form of muscular dystrophy ...

Medicine & Health / Medical research

created May 26, 2009 | popularity not rated yet | comments 0

First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping

Genetic researchers at Children's National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of "multiple exon-skipping" to curb the devastating ...

Medicine & Health / Neuroscience

created Mar 16, 2009 | popularity 5 / 5 (2) | comments 0