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Costamere proteins and their involvement in myopathic processes

Published online by Cambridge University Press:  19 June 2015

Oihane Jaka ,
Leire Casas-Fraile ,
Adolfo López de Munain  and
Amets Sáenz
Oihane Jaka
Affiliation:
Neurosciences Area, BioDonostia Institute, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Carlos III Health Institute, Spanish Ministry of Economy and Competitiveness, Madrid, Spain
Leire Casas-Fraile
Affiliation:
Neurosciences Area, BioDonostia Institute, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Carlos III Health Institute, Spanish Ministry of Economy and Competitiveness, Madrid, Spain
Adolfo López de Munain
Affiliation:
Neurosciences Area, BioDonostia Institute, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Carlos III Health Institute, Spanish Ministry of Economy and Competitiveness, Madrid, Spain Department of Neurology, Donostia University Hospital, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain Department of Neurosciences, University of the Basque Country, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain
Amets Sáenz*
Affiliation:
Neurosciences Area, BioDonostia Institute, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Carlos III Health Institute, Spanish Ministry of Economy and Competitiveness, Madrid, Spain
*
*Corresponding author: Neurosciences Area, BioDonostia Institute, Paseo Dr. Begiristain s/n, 20014 San Sebastián, Spain. E-mail: [email protected]
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Abstract

Muscle fibres are very specialised cells with a complex structure that requires a high level of organisation of the constituent proteins. For muscle contraction to function properly, there is a need for not only sarcomeres, the contractile structures of the muscle fibre, but also costameres. These are supramolecular structures associated with the sarcolemma that allow muscle adhesion to the extracellular matrix. They are composed of protein complexes that interact and whose functions include maintaining cell structure and signal transduction mediated by their constituent proteins. It is important to improve our understanding of these structures, as mutations in various genes that code for costamere proteins cause many types of muscular dystrophy. In this review, we provide a description of costameres detailing each of their constituent proteins, such as dystrophin, dystrobrevin, syntrophin, sarcoglycans, dystroglycans, vinculin, talin, integrins, desmin, plectin, etc. We describe as well the diseases associated with deficiency thereof, providing a general overview of their importance.

Type
Review Article
Information
Expert Reviews in Molecular Medicine , Volume 17 , 2015 , e12
Copyright
Copyright © Cambridge University Press 2015 

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