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.

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
References in periodicals archive ?
The N-terminal actin-binding tandem calponin-homology (CH) domain of dystrophin is in a closed conformation in solution and when bound to F-actin.
Computational study of the human dystrophin repeats: interaction properties and molecular dynamics.
Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
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].
Depending on the fact that mutations maintain or not of the reading frame, dystrophin will or not be present according to the Monaco rule [6].
CLINICS, HISTOPATHOLOGY AND DYSTROPHIN IN DMD AND BMD
Tensile stimuli that exceed the plastic phase may cause micro-lesions and sarcolemmal damage, which can impair the integrity of dystrophin and the dystrophin-glycoprotein complex, resulting in an increase of permeability to ions and small molecules and lead to muscle degeneration and necrosis.
The involvement of dystrophin and laminin in force transmission is widely described in the literature (1,18,19).
Key Words: Dystrophin, Immunohistochemistry (IHC), Muscular Dystrophies.
Dystrophin is a very large protein having 3685 amino acids.
Dystrophin is the largest gene in the human genome, containing approximately 4,000 amino acids.
To fit the dystrophin gene into a vehicle that could deliver the gene to the appropriate site in the body, one has to delete 70 percent of the gene.