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PubMed1984

Heterozygote detection in Hunter syndrome.

Iduronate sulfate sulfatase activity was determined in 36 women, relatives of Hunter syndrome patients. The use of serum and lymphocyte extracts for the determination of enzyme levels enabled the detection of 13 out of 15 (86%) obligate heterozygotes and identification of 10 of 21 other relatives as carriers. These methods are relatively simple and can easily be applied for routine examinations of all women at risk of being a Hunter heterozygote. These results permit for the first time meaningful genetic counseling for the families of Hunter patients.

Adult↗
PubMed1979

Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B).

Two brothers, aged 40 and 38 years, suffered from dysplastic features, coarse facies, bone and skeletal abnormalities, deformities of spine, and joint impairments. Body heights were 168 and 164 cm, respectively. Enlargement of liver and spleen, cardiac insufficiency, marked corneal clouding, and hernias were absent. Both patients had signs of cervical and lumbar radiculopathy and cervical myelopathy (tetraspastic syndrome). Vacuoles, acid phosphatase-positive granules, and metachromatic inclusions were found in peripheral lymphocytes; granulocytes and monocytes contained azurophilic hypergranulation. By electron microscopy, clear membrane-bound vacuoles were noted in lymphocytes (but not in neurtrophils), fibroblasts, Schwann cells, mural cells of the vasculature, and epidermal cells. Leukocytes, urine, and cultured skin fibroblasts revealed a deficiency of arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase). The 6-year-old daughter of one of the patients has an intermediate level of this enzyme. Fibroblasts exhibited a constant intracellular accumulation of 35S-labeled mucopolysaccharides. The urine of one of the brothers showed an abnormal mucopolysacchariduria; in both, the presence of urinary dermatan sulfate could be demonstrated. These findings conform to the mild B variant of Maroteaux-Lamy syndrome with high longevity.

Adult↗
PubMed1982

A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.

The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystrophy (MLD) are reported. The patient showed slow early development and deteriorated further during her first two decades. Nerve conductions were slow, and a sural nerve biopsy showed features of a sulfatide lipidosis. Urinary sulfatide excretion was comparable to that of patients with classic MLD, yet in vitro activity of arylsulfatase A and B and cerebroside sulfatase activity were normal. Skin fibroblasts cultured in medium supplemented with 3H-labeled sulfatide showed accumulation of labeled sulfatide in large amounts, implying a defect in sulfatide hydrolysis in vivo in spite of intact enzyme activity in vitro.

Adult↗
PubMed1984

Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis.

A 3 1/2-year-old slightly retarded boy with marked deficiency of arylsulfatase A (ASA) activity in leucocytes and fibroblasts and almost no cerebroside sulfatase (CS) activity in fibroblasts was tested with the sulfatide-loading test. On this test his fibroblasts showed impaired degradation. A pathological excretion of sulfatides was seen in his urine. Nerve conduction velocity, visual evoked potential, auditory brain stem evoked response, and somatosensory evoked potential were all normal. His father and older brother had similarly low levels of ASA in leucocytes and fibroblasts and 1.7-2% residual CS activity in fibroblasts. Although both were clinically normal, their fibroblasts accumulated increased amounts of sulfatides when challenged in the sulfatide-loading test. In this family, this test thus will be of no value in prenatal diagnosis to discriminate among low ASA fetuses with pseudoarylsulfatase A deficiency and fetuses with this unusual ASA deficiency variant.

Adult↗
PubMed1987

Steroid sulphatase levels are higher in males than in females of the root vole (Microtus oeconomus). Yet another rodent with an active Y-linked allele?

Steroid sulfatase (STS; EC 3.1.6.2) levels were assayed in cultured fibroblasts of root voles captured in the wild. Four independent experiments were performed using two different substrates (DHEAS and E1S). Evidence is presented that in this species, STS levels are significantly higher in males than in females (ratio 1.6:1). We discuss our findings on a comparative basis and suggest that in the root vole the STS gene(s) is X- and Y-linked (as in the mouse) and that it is subject to X-inactivation, or partially so, on one of the X chromosomes in the female.

Alleles↗
PubMed1980

A new case of Y to X translocation in a female.

An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.

Adult↗
PubMed1983

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.

Major diagnostic criteria for the Rud syndrome are ichthyosis, hypogonadism, mental retardation, and epilepsy. Two unrelated patients are presented and compared with 28 reported cases. Genetical heterogeneity of the Rud syndrome is suggested by differences in clinical features, histological and endocrinological findings, steroid sulfatase activity, and modes of inheritance.

Child↗
PubMed1985

Steroid metabolism by human chorion laeve from dichorionic twin pregnancies.

Certain steroid metabolic properties of chorion laeve from dichorionic twin pregnancies were examined to determine whether they were present in chorion not contaminated by decidua or serum. In the chorion situated between the two amniotic sacs and not in contact with decidua, aryl sulfatase, 3 beta-hydroxysteroid dehydrogenase, and aromatase activities were found. This indicates that these reactions are present in chorion laeve and were not previously ascribed to this tissue because of decidual contamination. Specific cortisol binding was also present in this area of chorion laeve, which excludes serum contamination. It is suggested that the specific steroid-binding protein in the membranes may be derived from the transcortin-like protein present in amniotic fluid.

3-Hydroxysteroid Dehydrogenases↗
PubMed1979

Antigen-antibody interactions and the anomalous kinetics of arylsulfatase A.

Antibodies against homogeneous rabbit liver arylsulfatase A (aryl-sulfatase sulfohydrolase, EC 3.1.6.1) were produced in a goat and the effects of these antibodies on the kinetic parameters of the enzyme have been studied. The results indicate that the binding of antibody to the enzyme does not alter the enzyme active site, since Km and -ki values are unaffected. However, a small reduction in the enzyme activity was observed as the result of a reduction of V in the enzyme-antibody complex. The binding of antibodies led to a change in the pH-rate profile, giving one broad pH optimum shifted toward higher pH value. The enzyme-antibody complex still showed the characteristic arylsulfatase A anomalous kinetics at pH 5.5, but the inactivation was significantly slower than for the native enzyme. As calculated from quantitative immuno-precipitation data, the native enzyme bound 5--7 molecules of IgG. The number of IgG molecules which bound to the turnover-modified enzyme was reduced to 3--4. The loss of antigenic determinants from the turnover-modified enzyme indicates that significant conformational changes occur during the turnover-induced modification, or that a covalent modification of residues present at the antigenic sites has occurred, or both.

Animals↗
PubMed1991

Developmental profiles of arylsulfatases A and B in rat cerebral cortex and spinal cord.

Arylsulfatases A (EC 3.1.6.1) and B (EC 3.1.6.12) are lysosomal enzymes that can remove sulfate groups from sulfatides and sulfo-glycosaminoglycans, respectively. The activities of these enzymes in cerebral cortex and in spinal cord of developing rat pups were measured. The tissues were homogenized and the arylsulfatases A and B in the soluble fraction were separated from each other by anion exchange chromatography on DE-52 cellulose. Subsequently, the enzyme activities were assayed with p-nitrocatechol sulfate as substrate at 37 degrees C and pH 5.6. We observed a developmental profile of arylsulfatase A, similar to that previously reported for cerebroside sulfatase (EC 3.1.6.8; (Van der Pal et al. (1990) Biochim. Biophys. Acta 1043, 91-96]. The activity of arylsulfatase A increased gradually during development, whereas arylsulfatase B rose more steeply, peaked around day 15 and declined thereafter. As a consequence the ratio between B and A forms of arylsulfatase dropped from about 4 in 1-week-old pups to 2.2 (cortex) and 0.7 (cord) in 7-week-old rat pups.

Animals↗
PubMed1983

Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.

The biosynthesis of arylsulfatase A was studied in cultured fibroblasts by pulse-chase labeling with [2-3H]mannose; the enzyme was isolated by immunoprecipitation and denaturing polyacrylamide gel electrophoresis. In normal fibroblasts, and in fibroblasts from a patient with multiple sulfatase deficiency, the enzyme was synthesized as a glycoprotein of apparent molecular weight of 59,000; half of it was processed over a period of 4 days to Mr = 57,000. The precursor chain of Mr = 59,000 was secreted in the presence of 10 mM NH4Cl. An immunoprecipitable glycoprotein of normal size was synthesized by fibroblasts from two unrelated patients with metachromatic leukodystrophy, but this material disappeared within twenty hours. In fibroblasts from an individual with pseudo-deficiency of arylsulfatase A, the immunoprecipitable precursor glycoprotein was smaller (Mr = 56,000). The synthesis of cross-reactive proteins with altered properties supports the concept of allelic mutations as the genetic basis of metachromatic leukodystrophy and of arylsulfatase A pseudo-deficiency.

Alleles↗
PubMed1984

Microheterogeneity of arylsulfatase a: Treatment with hydrolytic enzymes.

Cerebroside sulfatase also known as arylsulfatase A from human liver displays six microheteromer bands upon narrow pH range isoelectric focusing. Sialic acid residues only partially account for this enzyme multiplicity since neuraminidase treatment reduces the number of bands to three. Uptake studies with cultured fibroblasts strongly suggest arylsulfatase A has covalently bound mannose 6-phosphate residues. However, treatment with alkaline phosphatase and a battery of glycohydrolases failed to reduce the number of enzyme charge forms below three. These results imply that the neuraminidase-resistant charge microheterogeneity is not due to structures associated with the carbohydrate moiety of arylsulfatase A.

Cells, Cultured↗
PubMed1986

Protein phosphorylation of lysosomal arylsulfatase B in normal and leukemic leukocytes.

An acidic variant form of arylsulfatase B from normal leukocytes and chronic myelogenous leukemia (CML) leukocytes was found to be phosphorylated at its serine and threonine residues through in vivo phosphorylation with 32Pi. However, the predominant phosphorylation site was serine in normal cells, in contrast to threonine in CML cells. A cyclic AMP-dependent protein kinase was responsible for phosphorylation of the sulfatase of CML cells.

Chondro-4-Sulfatase↗
PubMed1988

Characterization of low-density lipoproteins from patients with recessive X-linked ichthyosis.

We investigated lipoprotein metabolism in 14 patients with recessive X-linked ichthyosis (RXLI), a metabolic disease characterized by scaly skin, corneal opacity and steroid sulfatase deficiency. Plasma total cholesterol (TC) levels ranged from normal to slightly low (mean +/- SD: 156 +/- 28 mg/dl). Four patients showed a mild or moderate elevation of plasma triglyceride (TG) levels ranging from 150 to 365 mg/dl. The apoprotein B (apo B) to TC ratio was higher than in normal controls (0.63 +/- 0.11 vs. 0.52 +/- 0.07, P less than 0.01), while plasma apoB levels were within the normal range (99 +/- 17 mg/dl). Polyacrylamide gel electrophoretic mobility of low-density lipoprotein (LDL) was markedly increased in all patients, and further analyses showed that this finding was not due to a change in the particle size of the LDL but to an increased content of cholesterol sulfate (1.0-2.3% of the LDL-cholesterol content). In addition to the alteration of electrophoretic mobility, marked changes in the lipid and apoprotein compositions of the LDL fraction were observed; cholesterol ester content in LDL (LDL-CE) was significantly lower than that of control subjects (37 +/- 4% vs. 41 +/- 2% of total lipids, P less than 0.01), while the triglyceride content (LDL-TG) and apo B to cholesterol ratios in LDL were significantly higher than those of controls (18 +/- 7 vs. 10 +/- 2, P less than 0.001; 1.21 +/- 0.19 vs. 0.73 +/- 0.05, P less than 0.001, respectively). This anionized LDL, in which cholesterol sulfate was increased, was shown to bind to the LDL receptor of fibroblasts to much the same extent as normal LDL. In conclusion, the increase in cholesterol sulfate in LDL fraction not only alters the electrophoretic moiety but also the relative contents of apoB, cholesterol, and triglyceride in the lipoprotein. It does not change the affinity of LDL for the LDL receptor.

Adolescent↗
PubMed1986

Chromatofocusing of mammalian estrone sulfate sulfohydrolase activity.

Estrone sulfate sulfohydrolase (estrogen sulfatase) activity was solubilized by treatment with Triton X-100 from 105,000 g pellets of guinea pig uterus, testis and brain, as well as from rat liver and human placenta. The solubilized forms were subjected to chromatofocusing in the fast protein liquid chromatography (FPLC) system and on conventional columns packed in our laboratory. The guinea pig tissue pattern was complex. Uterus showed peaks of activity with apparent pI's of 9.11 and 7.6; testis contained 3 peaks with pI's of 9.18, 8.7 and 7.5; brain possessed peaks with pI's of 9.28 and 8.6. In each case the major activity peak was that with pI greater than 9. Rat liver activity chromatofocused as a single peak of apparent pI = 6.87 and the human placental enzyme also showed a single, though broad, peak, of pI = 6.57. This suggests not only that the guinea pig enzyme(s) differs markedly from those of rat liver and human placenta, but that there may be qualitative differences between the forms in the three guinea pig tissues. Chromatofocusing behaviour was not independent of the specific exchange resins and ampholytes utilized. The recovered enzyme activity was fairly stable and it seems that chromatofocusing could be a useful step in purification of the guinea pig enzyme(s), particularly the main form possessing a pI greater than 9.

Animals↗
PubMed1987

Sterol sulfates in the epididymis; synthesis and possible function in the reproductive process.

Sterol sulfates are present in relatively high concentrations in the male reproductive tract. Cholesteryl sulfate is the major sterol sulfate in the human epididymis while desmosteryl sulfate is the major sterol sulfate in the hamster epididymis. While the testis is the major source of sterol sulfate in the human, the epididymis of the hamster is the source of demosteryl sulfate. This conjugate accumulates along the length of the epididymis and is taken up by the plasma membrane in the acrosomal region of the spermatozoa. Sulfotransferase activity increases along the epididymis and this is due to the actual synthesis of the enzyme. Sterol sulfates are potent and specific inhibitors of the proteolytic enzyme, acrosin. This property could provide protection against the premature release of proteolytic activity within the male reproductive tract. It is proposed that the removal of this inhibition occurs within the female tract via sulfatase activity in order to enable the acrosome reaction and ovum penetration to occur.

Acrosin↗
PubMed1988

Quantitative assessment of endogenous testicular and adrenal sex steroids and of steroid metabolizing enzymes in untreated human prostatic cancerous tissue.

Total tissue content and subcellular distribution of DHEA sulfate, DHEA, androst-5-ene-3 beta,17 beta-diol, androst-4-ene-3,17-dione, testosterone, 5 alpha-DHT, and 5 alpha-androstane-3 alpha,17 beta-diol as well as the activities of steroid sulfate-sulfatase, 17 beta-hydroxysteroid dehydrogenase, 5 alpha-reductase, 3 alpha/beta-hydroxysteroid dehydrogenase, and creatine kinase were quantified in 12 untreated primary tumors of prostatic cancer. Samples were obtained by radical prostatectomy and serial sections, and were alternately used for either biochemical or morphological evaluation. The results were compared with values determined in benign parts of the same prostates. Qualitatively, all enzymes and steroids found in the benign tissues could also be demonstrated in the cancers. Steroid patterns showed individual quantitative variation but no general differences between the carcinomas and the benign tissues. Enzymes showed a tendency to lower activities in the cancers, particularly when expressed per DNA. Substantial diminutions of creatine kinase and 5 alpha-reductase activity, the latter being often accompanied by an increased testosterone/DHT ratio, were the most striking differences seen in most of the cases between malignant and nonmalignant tissues. Some interesting individual parallels of morphological and biochemical aspects were seen, but there was no obvious general parallelism between the histological picture and endocrinological characteristics.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗
PubMed1985

Inhibition of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and sterol synthesis by cholesterol sulfate in cultured fibroblasts.

Although widely distributed throughout mammalian tissues, the biological function of cholesterol sulfate remains largely unknown. In these studies we have demonstrated that cholesterol sulfate suppresses de novo sterol synthesis in cultured human fibroblasts. It was further shown in these cultured cells that cholesterol sulfate is a potent inhibitor of the enzyme, 3-hydroxy-3-methylglutaryl coenzyme A reductase (mevalonate: NADP+ oxidoreductase (CoA-acylating), EC 1.1.1.34), the rate-limiting enzyme in cholesterol biosynthesis and the site at which exogenous cholesterol suppresses endogenous cholesterol synthesis. Because cholesterol sulfate inhibited sterologenesis in steroid-sulfatase deficient fibroblasts derived from patients with recessive X-linked ichthyosis, it was inferred that cholesterol sulfate per se and not cholesterol liberated by intracellular desulfation was the inhibitor in these studies. Cholesterol sulfate may be an endogenous regulator of mammalian cholesterol biosynthesis.

Cell Division↗