Search results for "Sulfatase"
showing 10 items of 38 documents
Susceptibility of mouse skeletal muscles to exercise injuries.
1983
The susceptibility to exercise-induced myopathy was studied by histological and biochemical methods in various skeletal muscles of mice 3-4 days after a single bout of prolonged running. The degree of exercise injuries varied greatly in different muscles. Soleus and the red deep parts of quadriceps femoris were the most severely affected muscles. Extensive or scattered necrosis of muscle fibers was associated with focal inflammation and a five- to nine-fold increase in the activity of beta-glucuronidase in these muscles. Slight necrotic changes and a two- to three-fold increase in the activity of beta-glucuronidase were observed in tibialis anterior, plantaris, and the red deep parts of gas…
Targeting metabolomics analysis of the sunscreen agent 2-ethylhexyl 4-(N,N-dimethylamino)benzoate in human urine by automated on-line solid-phase ext…
2011
The in vivo metabolism of the xenobiotic agent 2-ethylhexyl 4-(N,N-dimethylamino)benzoate (EDP), a UV filter commonly used in sunscreen cosmetic products, was studied by targeting metabolomics analysis in human urine. The metabolomic study involved the use of urine from male and female volunteers before and after application of an EDP-containing sunscreen cosmetic. The metabolism of EDP in urine was studied by using the triple quadrupole detector in a combination of Precursor Ion Scanning and Neutral Loss Scanning modes, with and without enzymatic hydrolysis. Detected metabolites were subsequently confirmed as glucuronide conjugates of 4-(N,N-dimethylamino)benzoic acid and 4-(N-methylamino)…
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
1992
Hunter syndrome is an X-linked mucopoly-saccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in th…
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
1992
Hunter disease (McKusick 309900) is an X-chromosomal mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulphatase (IDS; EC 3.1.6.13). Diagnosis is based on both the typical clinical features of patients and the lack/reduction of IDS activity. Female carriers show no symptoms of the disease. In the past, several different assays were elaborated for measuring enzyme activity in carriers but none of them proved to be suitable for detecting heterozygotes reliably (Zlotogora and Bach 1984)
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene
1993
Hunter disease is an X-linked mucopolysaccharidosis caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Using the IDS cDNA and DNA probes corresponding to loci flanking the IDS locus, we performed molecular genetic studies in two patients with Hunter syndrome. An interstitial deletion spanning the middle part of the IDS gene was found in the first patient. The second patient carries a gross gene rearrangement that can be detected after HindIII or EcoRI digestion of genomic DNA, and is similar to that found recently in seven unrelated Hunter patients. Our data suggest that the structural aberration observed is a partial intragenic inversion. As the same altered hybridiz…
Interrelationship between demethylation of p-nitroanisole and conjugation of p-nitrophenol in rat liver
1973
The metabolism of p-nitroanisole (pNA) and p-nitrophenol (pNP) was studied in isolated rat livers perfused with a hemoglobin-free medium. The activity and viability of the surviving organ was tested by recording pH, “arterial” and “venous” oxygen tension as well as the disappearance of added pNP. pNA is converted to its primary metabolite pNP which, in turn, is excreted into the perfusion medium as conjugates. The coordination of pNA oxidation and the conjugation reactions of pNP were investigated. When 50 μM pNA is added as substrate 0.4±0.1 nmoles×ml−1×(g liver)−1 are excreted as pNP-glucuronide and 3.5±0.2 nmoles×ml−1×(g liver)−1 as the sulphate within 90 min. When pNP itself (50 μM) is …
Hunter disease before and during enzyme replacement therapy.
2011
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disease attributable to X-linked deficiency of the enzyme α-L-iduronate-sulfatase. Because of this deficiency, glycosaminoglycanes accumulate in various tissues and body fluids. We describe three patients representing the broad spectrum of Hunter disease and their response to enzyme replacement therapy. Patient 1 did not manifest central nervous system involvement, patient 2 manifested moderate neurologic disease, and patient 3 had already manifested a severe neurologic course during early infancy. In all patients, improvements in visceral organ size, physical capacity, and gastrointestinal functioning were reported. More…
Lysosomal changes related to ageing and physical exercise in mouse cardiac and skeletal muscles.
1982
Physical exercise increased the activities of arylsulphatase, cathepsin D and β-glucuronidase in mouse skeletal muscle but not in cardiac muscle. Exercise-induced lysosomal response was more prominent in young adult than in senescent mice. The lipofuscin content of cardiac and skeletal muscles increased markedly during ageing and was also found to increase slightly after exertion in young mice, but not in senescent ones.
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutat…
1994
Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.
Prednisolone decreases exercise-induced acid hydrolase response in mouse skeletal muscle.
1984
Male NMRI-mice were subjected to exhaustive treadmill exercise. 3 and 6 days after the exertion, quadriceps femoris muscles were examined histologically and analyzed for acid hydrolases in order to follow the degree and progress of injuries. Prednisolone (PRED), an anti-inflammatory corticosteroid, was given to some of the animals in order to modify the exercise response. The PRED administration began 14 h before exercise and continued until the end of the experiment (6 days). The doses were 25 and 50 mg . kg-1 i.p. twice a day. The activities of both arylsulphatase and beta-glucuronidase increased significantly in the exercise control group after 3 and 6 days. The increase in activity corr…