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

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Query: EC:3.1.6.1 (sulfatase)
3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked ichthyosis is an inherited skin disorder caused by deficiency of steroid sulfatase activity. We studied the possibility of diagnosing the defect in patients and carriers by using polymerase chain reaction (PCR) and high-performance liquid chromatography (HPLC). We chose the usual PCR procedure of 25 temperature cycles. PCR products were resolved by HPLC and quantified by measurement of absorbance at 260 nm. The optimal amount of DNA template was 50 ng using either steroid sulfatase (STS) or beta-globin (internal control) primer. The results show that the amount of STS in ichthyosis patients was null. The amount of STS DNA in mothers of patients was half of that in normal females. By this HPLC-PCR method we will able to diagnose not only ichthyosis patients but also carriers before birth.
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PMID:Diagnosis of a deletion of steroid sulfatase by polymerase chain reaction and high-performance liquid chromatography. 924 25

X-linked ichthyosis is the result of steroid sulfatase (STS) deficiency. While most affected individuals have extensive deletions of the STS gene, point mutations have been reported in three patients (1). In this study, we identify an additional three point mutations and characterize the effects of all six mutations on STS activity and expression. All six are unique single base pair substitutions. The mutations are located in a 105-amino acid region of the C-terminal half of the polypeptide. Five of the six mutations involve the substitutions of Pro or Arg for Trp372, Arg for His444, Tyr for Cys446, or Leu for Cys341. The other mutation is in a splice junction and results in a frameshift causing premature termination of the polypeptide at residue 427. All the affected residues are conserved to some degree within the sulfatase family. The six mutations were reproduced in normal STS cDNA and transiently expressed in STS-deficient cells. All six mutant vectors direct the expression of STS protein that lacks enzymatic activity. The mutant polypeptides show a shift in mobility on SDS-PAGE and resistance to proteinase K digestion when translated in the presence of dog pancreas microsomes, indicating glycosylation and normal translocation.
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PMID:Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. 925 98

Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency is an extremely rare autosomal recessive disorder affecting the activity of many sulfatases: arylsulfatase A, several mucopolysaccharide sulfatases, and steroid sulfatase. Certain aspects of the clinical phenotype can be attributed mainly to a deficiency of one specific sulfatase. Most patients develop metachromatic leukodystrophy caused by arylsulfatase A deficiency, dysostosis multiplex by mucopolysaccharide sulfatase deficiency, and ichthyotic skin by steroid sulfatase deficiency. We describe a 7-year-old boy with developmental delay from 7 months of age, progressive spastic quadriparesis, and coarse facial features. By 27 months of age, an ichthyotic rash had developed on the limbs, trunk, and scalp. A skin biopsy specimen revealed hyperkeratosis with a normal granular layer. The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis. This could reflect the residual activity of steroid sulfatase in some cases.
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PMID:Ichthyosis: the skin manifestation of multiple sulfatase deficiency. 933 8

Neurosteroids are steroids that are synthesized de novo in the brain from cholesterol and, in general, mediate their effects through ion-gated channel receptors such as gamma-aminobutyric acidA (GABA[A]) and N-methyl-D-aspartate receptors rather than through classical nuclear steroid hormone receptors. Steroid hormones are known to exist not only as free compounds, but also as sulfated derivatives. Pharmacological studies indicate that unconjugated and sulfated steroids, such as pregnenolone and pregnenolone sulfate, may have opposite effects on GABA(A) receptors. Thus, pregnenolone acts as a potent positive allosteric modulator of gamma-aminobutyric acid action at GABA(A )receptors, whereas pregnenolone sulfate acts as a potent negative modulator. Recent experiments also suggest that dehydroepiandrosterone and dehydroepiandrosterone sulfate may have distinct effects on growth of neurites from embryonic neocortical neurons in vitro. Thus, regulation of steroid sulfation may have profound behavioral and morphological effects on the nervous system. We, therefore, studied the developmental expression of the enzyme steroid sulfatase (STS), which converts sulfated steroids to free steroids. By in situ hybridization, STS messenger RNA was expressed in the embryonic mouse cortex, hindbrain, and thalamus during the last third of gestation. The sites of expression of STS were similar to those of P450c17, suggesting that these two enzymes may have concerted actions in similar functional processes.
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PMID:Expression of steroid sulfatase during embryogenesis. 934 4

The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). To establish the correct diagnosis, STS activity was determined in leukocytes using 7-(3)H-dehydroepiandrosterone sulfate as the substrate. No amplification of the 3' and 5' ends of the STS gene by PCR was detected in the DNA of 49 patients, whereas only one sample of 50 presented a normal amplification. This report shows a very high frequency of deletions in the human STS encoding gene in a representative sample of the Mexican population, and it defines the characteristics of XLI in patients whose STS gene has a complete deletion as a major molecular defect.
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PMID:X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene. 937 23

Inhibition of estrone sulfatase activity offers the potential for breast cancer prevention therapy by blocking a route to estrogen synthesis. We have investigated the inhibition of this activity by natural flavonoids in a human hepatic microsomal preparation in vitro. The majority of studies were performed with a male liver, but male and female livers exhibited comparable estrone sulfatase activities. The natural flavonoids, quercetin, kaempferol, and naringenin, significantly inhibited estrone sulfatase activity with I50 < 10 microM for the most potent, quercetin. Estrone sulfatase activity in the liver microsomes was biphasic, with a high affinity, low capacity, low concentration activity (Km 14.3 microM, Vmax 0.5 nmol/min/mg protein), probably steroid sulfatase-catalysed, and a low affinity, high capacity, high concentration activity (Km 1.5 mM, Vmax 21.5 nmol/min/mg protein), probably arylsulfatase C or E-catalysed. The former activity was inhibited uncompetitively by quercetin, the latter competitively. Quercetin, a natural dietary constituent, is a potent inhibitor of estrone sulfatase in vitro, and thus has the potential to express antiestrogenic activity in vivo.
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PMID:Inhibition of estrone sulfatase in human liver microsomes by quercetin and other flavonoids. 944

A retrospective survey was performed between 1983 and 1995 to determine the frequency of steroid sulfatase (STS) deficiency in Hiroshima. Males with ichthyosis were diagnosed enzymatically. During 1979-95 in Hiroshima Prefecture, 275,943 males were born and 28 had STS deficiency. The observed frequency of STS deficiency was 1 per 9855 males. Therefore, STS deficiency is fairly prevalent in Japan.
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PMID:Frequency of steroid sulfatase deficiency in Hiroshima. 958 3

A case of X-linked ichthyosis diagnosed antenatally by molecular analysis of fetal DNA is described. The diagnosis was made at 16 weeks gestation, following the finding of a maternal serum unconjugated estriol level lower than 0.1 MoM when performing a triple test. Fetal DNA was obtained from cultured amniocytes; two specific regions were amplified by polymerase chain reaction at 5' and 3' ends of the steroid sulfatase (STS) gene on Xp22.3 region. Analysis showed complete deletion of the STS gene on the distal tip of the X-chromosome short arm.
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PMID:Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome. 962 97

In the present study estrone sulfatase (steryl-sulfatase; EC 3.1.6.2) and phenylsulfatase (arylsulfatase B; EC 3.1.6.1) inhibiting as well as antioxidant effects exerted by ring B,C unsaturated sulfamates of estrone (J 1025), 17 beta-estradiol (J 1054, J 1059, J 1067), and 17 alpha-estradiol (J 1051, J 1064, J 1065) were examined as compared with their parent compounds, J 994, J 995, and J 1050, using six different in vitro models: (i) estrone sulfatase activity in human placental microsomes, (ii) phenylsulfatase activity isolated from Helix pomatia, (iii) Fenton reaction driven lipid peroxidation in rat synaptosomes, (iv) Fe(II)-chelating activities, (v) formation of superoxide anion radicals, and (vi) total antioxidative activities. Ring B,C unsaturated estrogen (so-called scavestrogen) sulfamates were found to act as potent inhibitors of the following enzyme activities and generated radicals: estrone sulfatase, phenylsulfatase, lipid peroxyl, and superoxide anion. In addition, scavestrogen sulfamates were able to influence the iron redox chemistry and total antioxidative activities. These findings indicate that relatively minor modifications in the chemical structure of classical steroid sulfamates can preserve or enhance their estrone sulfatase inhibiting properties and, simultaneously, amplify their antioxidant capacity to a great extent. Taken together, our data suggest that scavestrogen sulfamates such as J 1025, J 1051, or J 1054 (17 beta-dihydroequilenin sulfamate) may serve as a very promising basis for the development of steroid-derived estrone sulfate-sulfatase inhibitors characterized by promising estrone sulfatase inhibiting activities in combination with a "good" antioxidant potency.
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PMID:Scavestrogen sulfamates: correlation between estrone sulfatase inhibiting and antioxidant effects. 963 47

Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a male patient with Kallmann syndrome (KS), X-linked ichthyosis (XLI) and X-linked mental retardation (MRX). He was referred at the age of 15.4 years for delayed puberty and obesity. He had a previous history of pyloric stenosis, bilateral orchidopexy and surgical correction of a pes equinovarus adductus. On physical examination, generalised ichthyosis and hypoplastic external genitalia were found. KS was evident with hypogonadotropic hypogonadism, hyposmia and a hypoplastic anlage of the olfactory tract in magnetic resonance imaging. Lipoprotein electrophoresis, and lack of steroid sulfatase and arylsulfatase-C activity in leucocytes confirmed XLI. DNA investigation established an interstitial deletion in Xp22.3 involving the Kallmann (KAL) gene, the steroid sulfatase (STS) gene and a putative mental retardation locus (MRX). The novel MRX locus maps to a 1-Mb region between DXS1060 and GS1.
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PMID:Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. 972 39


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