Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Possible changes in collagen biosynthesis were studied in 50 patients with neuromuscular disorders and 14 controls. Type III procollagen aminoterminal propeptide concentrations and galactosylhydroxylysyl glucosyltransferase (GGT) activities were assayed in serum, and prolyl 4-hydroxylase and GGT activities were assayed in muscle biopsy specimens. All four assays showed significantly elevated values in cases of polymyositis, adult forms of muscular dystrophy, and amyotrophic lateral sclerosis, the concentration of muscular collagen also being significantly increased in the last two conditions. Some abnormalities were also seen in polyneuropathy, myotonia congenita, and undefined myopathy. High correlations were found among the values for the four assays, but no marked correlations with muscular collagen concentration or enzyme activities characteristic of neuromuscular disorders were found. The four assays may reflect changes in actual collagen synthesis in the diseased muscle.
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PMID:Changes in collagen metabolism in diseased muscle. I. Biochemical studies. 629 94

Immunofluorescence studies using specific antibodies against collagen of types I, III, IV, and V were carried out on muscle biopsy specimens from 22 patients with various neuromuscular disorders and seven controls. Increased staining with all antibodies was seen in the patients with polymyositis and muscular dystrophy. Increased staining with types I and III antibodies was found in the samples from the patients with amyotrophic lateral sclerosis in cases with an elevated concentration of muscular hydroxyproline. Two patients with amyotrophic lateral sclerosis showed no accumulation of collagen, and this was similarly true of the polyneuropathy cases. An accumulation of types IV and V collagen was typical for the myotonia congenita samples. The immunohistochemical results were in good agreement with the biochemical findings from the same patients.
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PMID:Changes in collagen metabolism in diseased muscle. II. Immunohistochemical studies. 713 17