Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.6.4 (
chondroitinase
)
2,039
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mucolipidosis IV (
ML IV
) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from
ML IV
patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a biochemical marker that will enable positive identification of
ML IV
, we studied glycosaminoglycan synthesis in fibroblast cultures from patients with this disease.
ML IV
and normal control fibroblasts were incubated with [3H]glucosamine and [35S]sulphate. Labelled glycosaminoglycans were extracted from the cell layer and medium. Chondroitin sulphate and hyaluronic acid were determined by analysis of disaccharides after digestion with
chondroitinase
ABC. Synthesis of neither of these two glycosaminoglycans differed significantly between control and
ML IV
fibroblasts. Synthesis of hyaluronic acid was nearly linear for 24 h, with mean calculated values of 11.7 +/- 1.4 and 14.4 +/- 1.6 pg/cell per 24 h in control and
ML IV
cultures respectively. The variability within the two groups is attributed primarily to population variability and possibly to culture density. These experiments exclude the possibility that a general metabolic defect in hyaluronic acid synthesis is responsible for the
ML IV
phenotype, nor can such a defect be used as a diagnostic tool for the disease.
...
PMID:Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid. 783 60
