Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the beta/A4 protein of Alzheimer's disease, on chromosome 21, three mutations at the same locus have been described (Val 717 Ile, Val 171 Phe, and Val 171 Gly). The heterogeneity of the disease was indicated in individuals with mutations involving chromosomes 19 and 14 as well. beta Protein has also been demonstrated in the rimmed vacuoles of inclusion-body myositis. Therapeutic advances include orthotopic liver transplantation to remove the site of synthesis of the mutant transthyretin molecule. Clinical manifestations of the various forms of amyloidosis involve virtually every system in the body; the breadth of the curious series of proteins called amyloid has been extended considerably in the past year.
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PMID:Clinical aspects of amyloidosis, including related proteins and central nervous system amyloid. 791 35

We established chronic graft vs host disease (GVHD) in (C57BL/10 x DBA/2)F1 mice with an injection of lymphoid cells from the parental DBA/2 strain. In addition to Abs earlier reported, of the 20 animals studied 13 developed Abs against transfer RNA/protein particles. Ten of the 13 sera immunoprecipitated a similar-sized RNA that co-migrated in PAGE with isoleucine tRNA. In immunoblots against proteins affinity purified using anti-isoleucyl-tRNA synthetase prototype serum, 7 of the 10 sera reacted with a polypeptide of 76 kDa that was similar in size to a protein recognized by a human anti-isoleucyl-tRNA synthetase serum. Three of 10 sera significantly and specifically inhibited isoleucyl-tRNA synthetase enzyme activity and one inhibited lysyl-tRNA synthetase activity. These data suggest that the autoantibodies to tRNA-associated proteins that develop in GVHD mice may react with amino acyl-tRNA synthetases, particularly those belonging to the multienzyme complex. Such autoantibodies are associated with myositis in humans, and these mice showed evidence compatible with myositis that appeared to be a manifestation of their GVHD. No previous example of spontaneous development of antisynthetases in animals has been described. We also demonstrated the presence of Abs against the NOR:90 nucleolar Ag as a new target in chronic GVHD. We conclude that chronic GVHD in mice provides a model for the study of the autoimmune responses that characterize human diseases such as mixed connective tissue disease, scleroderma, SLE, and myositis with a wider autoantibody response than that described so far.
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PMID:Autoantibodies to a transfer RNA-associated protein in a murine model of chronic graft versus host disease. 812 Apr 3