dystrophin


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dys·tro·phin

 (dĭs′trə-fĭn′)
n.
A large protein that stabilizes muscle fibers by forming a link between the internal cytoskeleton and a protein complex in the plasma membrane that is connected to the extracellular matrix. Genetic mutations resulting in the absence of dystrophin cause Duchenne muscular dystrophy, and those resulting in insufficient or abnormal dystrophin cause Becker muscular dystrophy.

dystrophin

(ˈdɪstrəfɪn)
n
(Pathology) a protein, the absence of which is believed to cause muscular dystrophy
References in periodicals archive ?
Without dystrophin, muscles degenerate and become progressively weaker.
Mutations in the dystrophin (Duchenne muscular dystrophy [ DMD ]) gene, which encodes a protein connecting the cytoskeleton of muscle fibers, result in X-linked recessive dystrophinopathy, including DMD and Becker muscular dystrophy (BMD).
Sex-linked muscular dystrophy associated with dystrophin deficiency has also been reported in some breeds of dogs, and is best seen in the Golden Retriever breed, as a condition known as golden retriever muscular dystrophy (GRMD) (BERGMAN et al.
It's important to remember that we're not going after the primary cause of the disease, dystrophin deficiency.
Dystrophin and the two related genetic diseases, Duchenn and Becker muscular dystrophies.
Owing to the lack of the dystrophin protein, muscle fibres break down and are replaced by fibrous and or fatty tissue causing the muscle to weaken gradually.
CAT-1004 is an oral small-molecule that Catabasis believes has the potential to be a disease-modifying therapy for the treatment of Duchenne, regardless of the underlying dystrophin mutation.
Researchers sent gene-editing components to cells in mice using the adeno-associated virus 9, and the rodents started producing dystrophin and showing improvement to skeletal muscle and the heart.
The degree of protection enabled mdx skeletal muscle to function similarly to control mice, with the protection achieved comparable to transgenic animal studies using highly functional dystrophin molecules," according to the senior author, Dr.
Dystrophin is essential to the integrity of muscle fibers; it is part of a protein complex that provides protection to the muscles over time.
Mutations of the dystrophin DMD gene are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies [1].
A margin line between DMD and BMD is only justified by the presence of dystrophin protein along with muscle strength.