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 ?
In the meantime, scientists are using next-generation sequencing technology, which produces millions of DNA sequences simultaneously, to completely sequence the chromosomal region in affected and normal animals and to identify all the DNA variation in dystrophin.
We propose Log-PCR as a new tool for complete screening of dystrophin exons and for sex testing.
Dystrophin is a plasma membrane-associated cytoskeletal protein of the spectrin superfamily and colocalizes in the membrane skeleton's caveolar domain.
It is a drug that is targeted at a specific group of patients with Duchenne and they have to have a particular type of mutation in the dystrophin gene, and the children who are likely to be able to be prescribed Translarna are from the age of five up until when they are teenagers.
Providing adequate oxygenation to muscles already weakened by abnormal dystrophin may be a strategy to slow the course of the disease.
Because dystrophin is absent in muscular dystrophy patients, its presence can prompt a devastating immune system response.
DGGE-based whole gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
In their study, Lai and Duan found that two particular sections of the dystrophin gene must be present for nNOS to bind to the muscle cells.
Filippo Buccella, President of Parent Project Italy and UPPMD board member, commented, "After thirty years since the discovery of the dystrophin gene, we are finally beginning to see a change in the landscape.
The new cells were also making dystrophin, a crucial muscle protein that mice with the dystrophy-like condition are unable to make.
Three of the boys given higher doses of the drug had their dystrophin restored to levels up to 18% that of normal muscle.