Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans.
The discovery of the dystrophin gene, whose mutations lead to Duchenne's and Becker's muscular dystrophy (DMD and BMD), represents the first important landmark by which, in the last ten years, molecular biology and genetic studies have revealed many of the molecular defects of the major muscular dystrophies. Very rapidly, several studies revealed the presence at skeletal and cardiac muscle sarcolemma of a group of proteins associated to dystrophin. This includes a set of five transmembrane glycoproteins, the sarcoglycans, whose physiological role, however, is still poorly understood. Dystrophin and the associated proteins are believed to play an important role in membrane stability and maintenance during muscle contraction and relaxation. However, the absence of sarcoglycans from sarcolemma does not appear to affect membrane integrity suggesting that these components of the dystrophin complex are recipients of other important functions. This review deals with recent advances in the knowledge of sarcoglycan function and organization that may give important insights into the pathogenetic mechanisms of muscular dystrophies.
National Research Council, Unit for Muscle Biology and Physiopathology, University of Padova, Italy.
R
R
Betto
D
D
Biral
D
D
Sandonà
D000595:Amino Acid Sequence; D000818:Animals; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000502:physiology; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics / Q000502:physiology*; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics / Q000502:physiology; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism; D049031:Sarcoglycans; D012508:Sarcolemma / Q000378:metabolism
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans