Dystrophin: Difference between revisions
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Dystrophin is a very large protein, in fact the gene that encodes it, also called dystophin, is the greatest in size within the human body [http:// | Dystrophin is a very large [[Protein|protein]], in fact the [[Gene|gene]] that encodes it, also called dystophin, is the greatest in size within the human body <ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. The protein plays an important role in [[Muscle|muscle]] cohesion both in myogenic and skeletal muscle. It does so by forming a group with other proteins, otherwise known as a protein complex, which is involved in connecting the [[Cytoskeleton|cytoskeleton]] of the muscle cells to one another. This aids the muscles' strength right down to individual muscle fibres and allows for contraction and relaxation of muscles without such movement would not be possible <ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. | ||
=== Diseases associated with abnormal dystrophin === | |||
*[[Duchenne muscular Dystrophy|Duchenne muscular Dystrophy]] (DMD) - this phenotype can be mapped to Xp21.2-p21.1 on the [[genome|genome]]. DMD can affect many regions of the body including [[Muscles]] located within the [[Heart]], eyes and nervous system. However it must be added that some of these phenotypes may as a result of [[Pleiotropy]] and not as a direct result of the condition<ref>[Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&amp;highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]</ref>. | |||
*[[Becker muscular dystrophy|Becker muscular dystrophy]] | |||
*DMD-associated dilated cardiomyopathy<br> | |||
== | === References === | ||
<references /><br> | |||
Latest revision as of 14:10, 28 October 2015
Dystrophin is a very large protein, in fact the gene that encodes it, also called dystophin, is the greatest in size within the human body [1]. The protein plays an important role in muscle cohesion both in myogenic and skeletal muscle. It does so by forming a group with other proteins, otherwise known as a protein complex, which is involved in connecting the cytoskeleton of the muscle cells to one another. This aids the muscles' strength right down to individual muscle fibres and allows for contraction and relaxation of muscles without such movement would not be possible [2].
Diseases associated with abnormal dystrophin
- Duchenne muscular Dystrophy (DMD) - this phenotype can be mapped to Xp21.2-p21.1 on the genome. DMD can affect many regions of the body including Muscles located within the Heart, eyes and nervous system. However it must be added that some of these phenotypes may as a result of Pleiotropy and not as a direct result of the condition[3].
- Becker muscular dystrophy
- DMD-associated dilated cardiomyopathy
References
- ↑ [Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]
- ↑ [Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]
- ↑ [Online Mendelian Inheritance in Man (1966-2015) "MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD" Available at:http://omim.org/entry/310200?search=duchenne%20muscular%20dystrophy&highlight=duchenne%20dystrophy%20muscular. Last accessed 22/10/2015]