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Dystrophin - Physiological Role and Function

Dystrophin - Physiological Role and Function

The largest gene of the human organism, DMD as it is called, is responsible for the production of the dystrophin protein. It is produced in large quantities in the muscle cells responsible for the movement of the human body (skeletal muscles) and the cardiac muscle, while it has been found in nerve cells of the brain in smaller amounts. In skeletal muscles and heart, dystrophin is one of the proteins that make up a "cluster" that works concertedly to strengthen muscle fibers and works protective so that they do not get injured during shrinkage and relaxation. It acts as an anchor by connecting the muscle cells and the components that are outside them, possibly contributing to the communication of these cells. In terms of dystrophin in brain nerve cells, from the little knowledge available, it is certain that it is really important in the physiological structure and function of synapses, ie the connections between nerve cells.

 

References

http://www.nature.com/nm/journal/v21/n12/full/nm.4006.html DMD Gene - Genetics Home Reference, U.S. National Library of Medicine, National Institutes of Health, https://ghr.nlm.nih.gov/gene/DMD#normalfunction A. C. Keefe, G. Kardon, A New Role for Dystrophin in Muscle Stem Cells, Nature Medicine, 21, pp. 391-1393, 2015.

Muscular Dystrophy Association