title: Costamere proteins and their involvement in myopathic processes.
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.
authors.affiliation: Neurosciences Area,BioDonostia Institute,Paseo Dr. Begiristain s/n,20014 San Sebastián,Spain.
authors.forename: Oihane
authors.initials: O
authors.lastname: Jaka
authors.affiliation: Neurosciences Area,BioDonostia Institute,Paseo Dr. Begiristain s/n,20014 San Sebastián,Spain.
authors.forename: Leire
authors.initials: L
authors.lastname: Casas-Fraile
authors.affiliation: Neurosciences Area,BioDonostia Institute,Paseo Dr. Begiristain s/n,20014 San Sebastián,Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munain
authors.affiliation: Neurosciences Area,BioDonostia Institute,Paseo Dr. Begiristain s/n,20014 San Sebastián,Spain.
authors.forename: Amets
authors.initials: A
authors.lastname: Sáenz
mesh_terms: D054974:Costameres / Q000235:genetics / Q000378:metabolism / Q000648:ultrastructure; D003893:Desmin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D049030:Dystroglycans / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D049029:Dystrophin-Associated Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D016023:Integrins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D009119:Muscle Contraction; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D051190:Plectin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D012508:Sarcolemma / Q000235:genetics / Q000378:metabolism / Q000648:ultrastructure; D012518:Sarcomeres / Q000235:genetics / Q000378:metabolism / Q000648:ultrastructure; D016608:Talin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D016596:Vinculin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: D003893:Desmin; D016189:Dystrophin; D049029:Dystrophin-Associated Proteins; D016023:Integrins; D051190:Plectin; D016608:Talin; C098885:dystrobrevin; C091824:syntrophin; D016596:Vinculin; D049030:Dystroglycans