chondroitin and Mucopolysaccharidosis-VI

Dermatan sulfate-chondroitin sulfate copolymers with a high content of dermatan sulfate are stored in cultured human skin fibroblasts from patients affected with mucopolysaccharidosis VI (Maroteaux-Lamy disease). Characterization of the storage material provided evidence that hyaluronidase-like enzymes are not present in these fibroblasts. This is based on the following observations: (i) dermatan sulfate chains stored intracellularly show no reduction of molecular size as compared with intact chains isolated from the extra-cellular space; (ii) the stored dermatan sulfate chains lack reducible end groups generated by endoglycosidases; (iii) homogenates of human skin fibroblasts do not degrade hyaluronate and (iv) the stored dermatan sulfate chains are degraded by testes hyaluronidase.

Topics: Cells, Cultured; Chondroitin; Dermatan Sulfate; Fibroblasts; Glycosaminoglycans; Humans; Hyaluronoglucosaminidase; Molecular Weight; Mucopolysaccharidoses; Mucopolysaccharidosis VI; Skin

Topics: Catechols; Chondroitin; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Kinetics; Mucopolysaccharidoses; Mucopolysaccharidosis VI; Nitro Compounds; Placenta; Pregnancy; Sulfatases; Uridine Diphosphate N-Acetylgalactosamine

Arylsulfatase B deficiency was demonstrated in peripheral leukocytes, cultured skin fibroblasts, and a lymphoid line derived from a patient with MLS. The patient's parents demonstrated levels of arylsulfatase B that were intermediate between those found in patient and those in control subjects. The activity (mean plus or minus SD) in leukocytes from normal subjects, the patient's parents, and the patient was 113.7 plus or minus 36.2, 31.0, and 5.2 nmol 4-nitrocatechol/mg protein/hr, respectively. In skin fibroblasts of the same subjects the activity was 145.2 plus or minus 41.6, 58.5, and 7.0, respectively. Nine other lysosomal enzymes were normal in skin fibroblasts of the patient. No arylsulfatase B activity was detected in a lymphoid line established from the patient with MLS. The arylsulfatase B activity in cultured amniotic fluid cells from 10 normal pregnancies was 203.2 plus or minus 49.9.

Topics: Amniotic Fluid; Arylsulfatases; Cell Line; Cells, Cultured; Child, Preschool; Chondroitin; Cystic Fibrosis; Female; Fibroblasts; Galactosemias; Gaucher Disease; Glycogen Storage Disease Type II; Heterozygote; Homozygote; Humans; Leukocytes; Leukodystrophy, Metachromatic; Lymphoid Tissue; Lysosomes; Male; Metabolism, Inborn Errors; Mucopolysaccharidoses; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Pregnancy; Skin; Sulfatases