[Significance of merosin and sarcoglycan in manifestations of certain forms of muscular dystrophy].
The muscular dystrophy is a progressive genetically determined disease of skeletal muscles. Thanks to the development of molecular genetics there have been identified genes responsible for synthesis of the corresponding proteins of the muscular membrane, whose deficiency causes certain types of muscular dystrophy. Thus, recently has been reported that deficiency of sarcoglycan (alpha, beta, gamma and sigma) is responsible for the appearance of four different types of autosomal recessive limb-girdle muscular dystrophies (2D, 2E, 2C, 2F), and that the lack of merosin is the cause of serious merosin deficiency, of congenital muscular dystrophy. The paper presents the nature, function and importance of the main components of sarcolemma, as well as the basic characteristics of muscular dystrophies caused by their deficiency. It is important to know the genetic product whose deficiency is responsible for certain types of muscular dystrophy as only by confirming their deficiency in the biopsy material the precise diagnosis can be established even without molecular-genetic analyses. This is of great importance for accurate genetic advising.
Medić
S
S
Department of Neurology, Dr. Dragisha Mishovitch Hospital-Clinical Centre, Belgrade.
Rakocević-Stojanović
V
V
D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism*; D049030:Dystroglycans; D006801:Humans; D007797:Laminin / Q000235:genetics / Q000378:metabolism*; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D049031:Sarcoglycans; D012508:Sarcolemma / Q000378:metabolism*
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans
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