Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.23.5 (cathepsin D)
 4,130 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with the DMC syndrome have been suggested to possess a specific sulfatase abnormality and/or to be deficient in a proteinase cleaving glycoprotein-acid mucopolysaccharide (AMP) linkage. We have previously found in DMC patients an abnormal excretion of urinary AMPs of which hyaluronic acid and chondroitin sulfate (A + C) were oversulfated and keratosulfate and heparan sulfate were undersulfated. Lysosomal acid proteinase, i.e. cathepsin D (EC 3.4.23.5) and neutral proteinase : elastase (EC 3.4.21.11) and cathepsin G were found to be normal in DMC patients. However, alpha 2-macroglobulin in serum was raised. This increase may be associated with a complex formation of alpha 2-macroglobulin with a neutral proteinase released from the cells. Increased levels of chondroitin sulfate N-acetylgalactosamine-6-sulfate sulfatase and sulfamidase and decreased enzymic levels of arylsulfatase A and B (EC 3.1.6.1) were found in leucocytes of DMC patients. The sulfatase activities assayed in the present study support our theory that a specific sulfatase abnormality may exist in the DMC syndrome.
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PMID:Lysosomal (leucocyte) proteinase and sulfatase levels in Dyggve-Melchior-Clausen (DMC) syndrome. 7 86

In continuation of previous studies, which showed a catabolic defect in proteoglycan metabolism, enzymes which degrade the proteoglycan macromolecules, e.g. proteinases (cathepsin D, elastase, and cathepsin G) and glycoisidases (arabinosidase and xylosidase) have been assayed in leucocytes of DMC patients. The regulator of lysosomal proteinases, cyclic AMP and serum antiproteinases, e.g. alpha1-AT and alpha2-M, have also been assayed. The proteinases assayed were normal in DMC patients. Arabinosidase activity in leucocytes of the patients was found to be decreased three fold, while xylosidase activity was increased three fold. A four-fold increased concentration of cyclic AMP in leucocytes of the patients and an increased serum concentration of alpha2-M associated with its abnormal pattern in crossed immunoelectrophoresis have been found. The abnormality in serum alpha2-M of DMC patients may be explained by a complex formation of alpha2-M with collagenase released from the lysosomes. Finally, an abnormal peptidoglycan has been demonstrated in DMC urine.
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PMID:Biochemical abnormalities in Dyggve-Melchior-Clausen syndrome. 63 1