Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The distribution of cathepsin D, an acidic endopeptidase, was localized by immunocytochemistry in human skeletal muscle obtained from 34 persons with a variety of neuromuscular disorders. Normal human skeletal muscle contained small amounts of cathepsin D, all of which was found close to the sarcolemmal membrane. Immunoreactive cathepsin D was present in the cytoplasm of many infiltrating phagocytic cells and was increased in skeletal muscle fibers from patients with muscular dystrophies, inflammatory myopathies, rhabdomyolysis, acid maltase deficiency, and neurogenic atrophy. In cases of Duchenne type muscular dystrophy, the increase in cathepsin D was especially prominent in small regenerating fibers, in which it was visualized at the ultrastructural level in lysosome-like organelles and extralysosomal locations. The function of cathepsin D in skeletal muscle is unclear, but the present findings suggest a possible role in muscle regeneration and repair. Such a role would necessitate careful selection of drugs which interfere with proteolytic activity if they are to be used as therapeutic agents in treating neuromuscular diseases.
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PMID:Immunocytochemical studies of cathepsin D in human skeletal muscle. 633 8

Two membrane proteins express the antigens that comprise the Kell blood group system. A single antigen, Kx, is carried on XK, a 440-amino acid protein that spans the membrane 10 times, and more than 20 antigens reside on Kell, a 93-kd, type II glycoprotein. XK and Kell are linked, close to the membrane surface, by a single disulfide bond between Kell cysteine 72 and XK cysteine 347. Although primarily expressed in erythroid tissues, Kell and XK are also present in many other tissues. The polymorphic forms of Kell are due to single base mutations that encode different amino acids. Some Kell antigens are highly immunogenic and may cause strong reactions if mismatched blood is transfused and severe fetal anemia in sensitized mothers. Antibodies to KEL1 may suppress erythropoiesis at the progenitor level, leading to fetal anemia. The cellular functions of Kell/XK are complex. Absence of XK, the McLeod phenotype, is associated with acanthocytic red blood cells (RBCs), and with late-onset forms of muscular dystrophy and nerve abnormalities. Kell, by homology, is a member of the neprilysin (M13) family of membrane zinc endopeptidases and it preferentially activates endothelin-3 by specific cleavage of the Trp21-Ile22 bond of big endothelin-3.
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PMID:The Kell blood group system: Kell and XK membrane proteins. 1079 80