dystrophin


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dys·tro·phin

(dis-trō'fin), [MIM*300377]
A protein found in the sarcolemma of normal muscle; it is missing in people with pseudohypertrophic muscular dystrophy and in other forms of muscular dystrophy; its role may be in the linkage of the cytoskeleton of the muscle cell to extracellular protein.
Synonym(s): distropin, dystropin

dystrophin

(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

[distrof′in]
a missing or defective protein in Duchenne muscular dystrophy that is localized to the sarcolemma of the muscle cell membrane. Its absence results in abnormal cell permeability, which may lead to cell destruction.

DMD

A gene on chromosome Xp21.2 that encodes dystrophin, a protein that anchors the extracellular matrix to the cytoskeleton via F-actin. It is the ligand for dystroglycan and a central component of the dystrophin-glycoprotein complex, which accumulates at the neuromuscular junction and at various synapses in the peripheral and central nervous systems and has a structural function in stabilising the sarcolemma. It plays a key role in signalling events and synaptic transmission. DMD is a highly complex gene, containing at least eight independent, tissue-specific promoters and two polyA-addition sites; it is the largest gene found in nature (2.4 Mb).

Molecular pathology
Defects of DMD cause both Duchenne- and Becker-type muscular dystrophy.

dys·tro·phin

(dis-trō'fin)
A protein found in the sarcolemma of normal muscle; it is missing in individuals with pseudohypertrophic muscular dystrophy and in other forms of muscular dystrophy.
Synonym(s): distropin, dystropin.

dystrophin

A large, rod-shaped structural protein situated in the sub-sarcolemmal region of the muscle fibre membrane. A mutation of the dystrophin gene that eliminates dystrophin production causes DUCHENNE MUSCULAR DYSTROPHY; a mutation that codes for a smaller amount of dystrophin or a modified molecule causes Becker dystrophy. See also MUSCULAR DYSTROPHY.

Dystrophin

A protein that helps muscle tissue repair itself. Both DMD and BMD are caused by flaws in the gene that instructs the body how to make this protein.
Mentioned in: Muscular Dystrophy

dystrophin

a membrane-associated protein, deficient in some types of muscular dystrophy.
References in periodicals archive ?
Pathogenesis of muscular dystrophy can be divided into two phases: phase I involves the direct effects of dystrophin deficiency, and phase II is related to endomysial fibrosis and muscular atrophy (HOFFMAN & GORSOSPE, 1991; NGUYEN et al.
Immunoblotting of dystrophin in DMD muscles reveals the total absence of dystrophin except in some revertant fibers.
5-8] In this clinically suspected BMD case, we found exceptional deletion exons 3-44 of both actin-binding and the rod domain, which is approximately 50% deletion for targeted dystrophin gene containing 79 exons for translation fully functional dystrophin protein.
A drisapersen phase III clinical trial (NCT01254019), with 186 patients, aiming to induce skipping of exon 51 and de novo dystrophin production in patient muscle, failed to show significant improvement of the primary out come measure, the 6-minute-walktest[86].
This novel porcine stress syndrome is not a malignant hyperthermia like the classical stress syndrome; it's a defect in dystrophin," Nonneman says.
Duchenne Muscular Dystrophy is an X-linked recessive, fatal genetic disorder resulting from mutations in the dystrophin gene located at Xp21 region2.
Patients lack a single important protein in their muscle fibres called dystrophin.
Dystrophin is a very large protein having 3685 amino acids.
Duchenne muscular dystrophy is caused by mutations in the very large dystrophin gene, which is too large to transfer when incorporated into the tiny adeno-associated virus.
MLPA has enabled more reliable and faster quantitative detection of the entire dystrophin gene containing 79 exons to study the deletions and duplications (17-20).
In this study comprising of 23 males and 9 females, we used paraffin blocks of skeletal muscle tissue and performed IHC using dystrophin and b-spectrin antibodies in the diagnosis of various types of muscular dystrophies.
Top-line biopsy data showed the generation of muscle fibers with the protein dystrophin of more than 50% of normal in a patient suffering from Duchenne muscle dystrophy (DMD), after being given the drug, AVI-4658.