A crucial question is how to predict which short dystrophins
will be stable and functional.
Several promoters are active in a tissue-specificity manner and lead to the expression of full length or shorter dystrophins.
We showed that the structure of the new dystrophins as produced in these BMD patients could partly explain the differences in the clinical severity of the patients.
Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy.
7 Muscle biopsy with IHC for dystrophins is the gold - standard for distinguishing muscular dystrophies.
In addition the use of other sarcolemmal antibodies including domains of dystrophins, are to be studied for other types of dystrophies.
Dystrophin and beta - Spectrin antibodies were used for immunohistochemistry.
The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.
DMD is caused by a genetic mutation in the X chromosome resulting in the absence of protein dystrophin on the membranes of muscle cells .
Despite these differences in clinical severity, DMD and BMD are caused by a mutation of the same dystrophin gene (also known as the "DMD gene"), which is located in the Xp21.
Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death.
For years, scientists have been working to find the key to restoring dystrophin, but they have faced many challenges.