title: The origin of dystrophin-glycoprotein complex(DGC)-related muscular dystrophies: the need for protection against an ancestral pathogen?
abstract: Because of its crucial role during the early stages of morphogenesis, no genetic defects associated to dystroglycan have been reported so far. Dystroglycan is an important member of the dystrophin-glycoprotein complex (DGC) and in several muscular dystrophies, depending on abnormalities of proteins belonging to or associated with the DGC, it is frequently observed a significant reduction of dystroglycan levels at the sarcolemma. Recently, it has been demonstrated that dystroglycan acts as a receptor for pathogens such as M. leprae and arenaviruses. It is well-known that mutated alleles causing diseases can be selected in order to confer an additional genetic advantage. Herein it is discussed the possibility that mutations leading to a certain number of muscular dystrophies might have been originally selected to indirectly gain a specific advantage: the absence or the lower levels of dystroglycan could have greatly reduced the risk of some ancestral lethal infections specifically directed against muscles.
authors.affiliation: CNR, Istituto di Chimica del Riconoscimento Molecolare, Istituto di Biochimica Clinica, Università Cattolica del Sacro Cuore, Roma, Italy. a.brancaccio@uniserv.ccr.rm.cnr.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Brancaccio
mesh_terms: D000483:Alleles; D016189:Dystrophin / Q000502:physiology*; D006023:Glycoproteins / Q000502:physiology*; D006801:Humans; D008954:Models, Biological; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000209:etiology / Q000382:microbiology / Q000473:pathology* / Q000821:virology; D009154:Mutation; D012306:Risk
chemical_list: D016189:Dystrophin; D006023:Glycoproteins