dystrophin


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.

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 ?
First, there is the urgent need to standardize methods for dystrophin quantification and optimize several aspects of the clinical trial design.
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. The main goals are to identify the mutation, test as many commercial pigs as possible, find out how prevalent the new stress syndrome is, and develop strategies in cooperation with the pork industry to eliminate it from the U.S.
Linkage disequilibria among (CA)n Polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies.
Immunohistochemistry detects the mutated proteins of muscular dystrophies that is a powerful tool in distinguishing different muscular dystrophies because of its speed, accuracy and an increasing availability of antibodies to dystrophin and its associated proteins.16 The evaluation of IHC staining pattern of dystrophin should be performed using beta spectrin that serves as an excellent control for muscle membrane integrity.17 This eliminates tha chances of false negative dystrophin staining that could be caused by a damage to the muscle membrane during handling or processing of muscle biopsy.18 At present in majority of the centers, immunohistochemistry is used on muscle tissue for the diagnosis of muscular dystrophies on fresh frozen sections.7
Spec- 1 and Dys -2 (spectrin antibody and dystrophin antibody) on two separate sections from each block and incubated for two hours.
We propose Log-PCR as a new tool for complete screening of dystrophin exons and for sex testing.
MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy.
In this case, immunostaining of dystrophin indicated that the other two X chromosomes are completely inactivated (data not shown).
DNA was also extracted at the same time for the dystrophin gene deletion study using M-PCR (26 exons incorporate; Chamber, Beggs and Kunkel set, available at: http://www.dmd.nl).
Translarna is designed to make the body skip genetic mutations when producing dystrophin. It is only suitable for 10-15% of those with the illness living with a 'nonsense mutation,' which is estimated to be approximately 200 patients in the UK.
When a muscle is stretched, it transmits the force to a set of structures located in the extra- and intracellular milieu, such as laminin and dystrophin, respectively.