Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Epstein, Ervin; Leventhal, Mary E.

doi:10.1172/jci110153

Cited by 113 publications

(46 citation statements)

References 21 publications

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“…Five patients with RXLI, documented by prior enzymatic assay (5), consented to having 1-cm2 shave biopsies performed from clinically involved sites on the trunk comparable to controls, i.e., back or abdomen, followed by in vitro splitting as described above for normals. Parallel studies were performed in neonatal mouse epidermis, which possesses a comparable spectrum of epidermal lipids to human epidermis (11,12).…”

Section: Methodsmentioning

confidence: 99%

“…Previously characterized by inheritance pattern and clinical presentation (1), this disorder can now be diagnosed biochemically because of the recent discovery that patients with RXLI lack the enzyme steroid sulfatase (2,3). Presumably, as a consequence of steroid sulfatase deficiency in skin and other tissues (4)(5)(6), one substrate, cholesterol sulfate, accumulates in red blood cells (7), serum (7,8), and stratum corneum (9). In contrast, sulfated steroid hormones, such as dehydroepiandrosterone sulfate, that are also substrates of this enzyme in vitro, do not accumulate in either blood or urine (8,10).…”

Section: Introductionmentioning

confidence: 99%

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Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

Elias¹,

Williams²,

Maloney³

et al. 1984

J. Clin. Invest.

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187

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

Elias¹,

Williams²,

Maloney³

et al. 1984

J. Clin. Invest.

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187

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“…Eight (3)(4)(5)(6)(7)(8)(9)(10)(11) years) were diagnosed by an in vitro assay of placental enzyme or by assay of maternal urinary 16oc-hydroxydehydroepiandrosterone sulphate; three others (36-50 years) were members of three of these families but were born before antepartum diagnosis was available.…”

Section: Subjectsmentioning

confidence: 99%

Steroid Sulphatase Deficiency: Identification of Heterozygotes Using Hydrolysis of Dehydroepiandrosterone Sulphate by Peripheral Leucocytes

Lowis

Oakey

1996

Ann Clin Biochem

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SUMMARY. Diagnosis of X-linked recessive ichthyosis, which is expressed only in males, can readily be made by measurement of leucocyte steroid sulphatase activity. However, because the gene for steroid sulphatase activity partly escapes from the process of X-chromosome inactivation associated with gene dosage compensation, identification of heterozygotes (females) is more difficult.We have measured the steroid sulphatase (by hydrolysis of dehydroepiandrosterone sulphate) and fJ-glucuronidase (by hydrolysis ofmethylumbelliferyl glucuronide) activities in leucocytes from 18 heterozygotes, 100 normal females, 100 normal males and II affected subjects. .When the ratio of the activities of steroid sulphatase and fJ-glucuronidase in mixed leucocytes was plotted as a function of the steroid sulphatase activity, 85% heterozygotes were distinguished from normal females. Measurement of steroid sulphatase activity alone with these cells enabled identification of 78% heterozygotes. Measurements on mononuclear leucocytes were much less effective.Thrombocytes showed I % of the steroid sulphatase activity of leucocytes. In females, leucocyte steroid sulphatase activity was independent of the stage of the ovarian cycle at which the cells were collected.

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“…The protein concentration of this fraction was determined using the Bradford method with bovine serum albumin standards. The STS assay was carried out according to the method described by Epstein and Leventhal 21) with slight modifications. Briefly, 30 µg of microsomal protein and 2.5 pmol of [ 3 H] dehydroepiandrosterone (DHEA) sulfate (Perkin Elmer, Boston, MA, U.S.A.) were mixed in a 0.25 mL volume of 50 mM Tris-HCl buffer, pH 7.4.…”

Section: Rna Extraction and Real-time Reverse Transcription-polymerasmentioning

confidence: 99%

Interferon Gamma Induces Steroid Sulfatase Expression in Human Keratinocytes

Hattori

Yamaguchi

Umezawa

et al. 2012

Biological & Pharmaceutical Bulletin

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Key words steroid sulfatase; keratinocyte; interferon gamma; nuclear factor-kappa B; dexamethasone Steroid sulfatase (STS) is a microsomal enzyme that catalyzes the hydrolysis of sulfated 3-hydroxysteroids to the corresponding free active 3-hydroxysteroids.1) This enzyme is widely distributed throughout the body, and its actions are implicated in both physiological processes and pathological conditions. In many peripheral organs such as skin STS play a key role in the production of dehydroepiandrosterone (DHEA) from DHEA sulfate, which is abundant in the circulation. DHEA is then used as a major precursor for the synthesis of potent androgens in the skin.2) Early studies in vitro and in vivo have shown that the human STS activity appears in specific skin types, such as in foreskin and infantile abdominal skin, after birth.3) It also has been shown that STS plays an important functional role in the skin as this enzyme is deficient in X-linked ichthyosis (X-LI). 4,5) It has been further demonstrated that both the expression of STS mRNA and its enzymatic activity are increased in malignant breast and endometrial tissues compared with nonmalignant tissues and that this increased STS affects active estrogen levels within cells by hydrolysis of inactive estrogen sulfates. 6) We recently reported that estradiol sulfate, whose formation is catalyzed by estrogen sulfotransferase, is a major metabolite of estradiol in human epidermal keratinocytes. 7) Since estrogens have a significant effect on skin differentiation and development, 8,9) the activity of STS, as well as of estrogen sulfotransferase in the skin must be properly regulated to maintain cutaneous homeostasis. However, little is known about the regulation of STS gene expression or activity in skin.It has been reported previously that interleukin-6 (IL-6) and tumor necrosis factor alpha (TNFα) act synergistically to increase STS activity in breast cancer cells, 10,11) and that this effect on STS activity is regulated by posttranslational modification of a cysteine residue in the catalytically active site of this enzyme to formyl glycine. In contrast, the inflammatory cytokine IL-1β decreases STS activity and the expression of STS mRNA in human endometrial stromal cells.12) In psoriatic plaques in skin, there is a predominance of T helper 1 cytokines, most notably interferon gamma (IFNγ).13) IFNγ is a cytokine that is produced by activated T cells and natural killer cells, and induces a variety of effects including anti-viral responses, cell growth and differentiation. 14) In the skin, IFNγ is known to play a pivotal role in the development of inflammatory and immune responses. [15][16][17] However, no information is available concerning the effect of IFNγ on STS expression. IFNγ has been reported to stimulate involucrin gene expression via STAT1 signaling in cells of the SVHK cell line that was established from SV40-transformed human keratinocytes. 18,19) To determine the effect of IFNγ on STS expression in the human epidermis, we investigated the effects of IFNγ...

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Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Cited by 113 publications

References 21 publications

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.

Steroid Sulphatase Deficiency: Identification of Heterozygotes Using Hydrolysis of Dehydroepiandrosterone Sulphate by Peripheral Leucocytes

Interferon Gamma Induces Steroid Sulfatase Expression in Human Keratinocytes

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