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)

A passive hemagglutination method for circulating autoantibody to purified human skeletal muscle myoglobin has been developed. This antibody was detected in the sera of 22 of 31 patients with polymyositis. The incidence and the antibody titers were significantly higher than in other myopathies such as myasthenia gravis (P less than .02), Duchenne-type muscular dystrophy (P less than .001), and other conditions (P less than .001). This new antibody test is useful in diagnosing polymyositis.
JAMA 1977 Apr 25
PMID:Circulating autoantibody against human myoglobin in polymyositis. 57 89

One hundred thirty-one patients who were referred for muscle biopsy for in vitro contracture testing (IVCT) for susceptibility to malignant hyperthermia (MH) were studied. Serum creatine kinase (CK) levels were determined routinely before biopsy by the hospital clinical laboratories. Thirty-four had abnormal IVCTs (indicating susceptibility to MH) and 87 patients had normal IVCTs; all these 121 patients had normal CK levels. Ten additional patients had other muscle disorders (central core disease, hyperkalemic periodic paralysis, and Duchenne's muscular dystrophy) and abnormal IVCTs; six of the ten had elevated CK levels. We conclude that the serum CK level, as determined routinely, does not identify MH-susceptible individuals, but may indicate the presence of muscle disease. Therefore, the use of serum CK level as a screening or diagnostic test for susceptibility to MH should be abandoned.
JAMA 1986 Feb 14
PMID:Serum creatine kinase level as a screening test for susceptibility to malignant hyperthermia. 394 79

Muscular dystrophy represents a major unmet medical need; only palliative treatments exist for this group of debilitating diseases. Because multiple forms of muscular dystrophy arise from compromised sarcolemmal membrane integrity, a therapeutic approach that can target this loss of membrane function could be applicable to a number of these distinct diseases.One promising therapeutic approach involves the process the cell uses to repair injuries to the plasma membrane. Recent discoveries of genes associated with the membrane repair process provide an opportunity to promote this process as a way to treat muscular dystrophy. One such gene is mitsugumin 53 (MG53), a member of the tripartite motif (TRIM) family of proteins (TRIM72), which is an essential component of the membrane repair pathway in muscle. Recent results indicate that MG53/TRIM72 protein can be directly applied as a therapeutic agent to increase membrane repair capacity of many cell types and treat some aspects of the disease in mouse models of muscular dystrophy. There is great potential for the use of recombinant human MG53 in treating muscular dystrophy and other diseases in which compromised membrane integrity contributes to the disease. Other TRIM family proteins may provide additional targets for therapeutic intervention in similar disease states.
JAMA Neurol 2013 Jul
PMID:TRIM proteins in therapeutic membrane repair of muscular dystrophy. 2369 4