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High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency[S]
- Source :
- Journal of Lipid Research, Vol 56, Iss 2, Pp 403-412 (2015)
- Publication Year :
- 2015
- Publisher :
- Elsevier, 2015.
-
Abstract
- Steroid sulfatase (STS) deficiency is the underlying cause of the skin condition known as recessive X-linked ichthyosis (RXLI). RXLI patients show scales on their skin caused by high concentrations of cholesterol sulfate (CS), as they are not capable of releasing the sulfate group from its structure to obtain free cholesterol. CS has been reported, so far, as the sole sulfated steroid with increased concentrations in the blood of RXLI patients. A non-targeted LC-MS approach in negative mode detection (LC-MS precursor ion scan mode) was applied to serum samples of 12 RXLI patients and 19 healthy males. We found that CS was not the only sulfated compound consistently elevated in RXLI patients, because a group of compounds with a m/z of 481 was found in high concentrations too. Further LC-MS/MS demonstrated that the main contributor to the m/z 481 signal in RXLI serum is 27-hydroxycholesterol-3-sulfate (27OHC3S). Accordingly, a new method for 27OHC3S quantification in the context of RXLI has been developed and validated. Other hydroxycholesterol sulfate compounds were elevated as well in RXLI patients.
- Subjects :
- Male
liquid chromatography/mass spectrometry
medicine.medical_specialty
Ichthyosis, X-Linked
sulfated steroids
Oxysterol
medicine.medical_treatment
Context (language use)
QD415-436
Biochemistry
Steroid
chemistry.chemical_compound
Endocrinology
Sulfation
Tandem Mass Spectrometry
Liquid chromatography–mass spectrometry
Internal medicine
medicine
Steroid sulfatase
Humans
Sulfate
Research Articles
recessive X-linked ichthyosis
steroid metabolism
Chemistry
Ichthyosis
Cell Biology
medicine.disease
Steryl-Sulfatase
Cholesterol Esters
Subjects
Details
- Language :
- English
- ISSN :
- 00222275
- Volume :
- 56
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Journal of Lipid Research
- Accession number :
- edsair.doi.dedup.....8276dfc87a1bf1347a9182461cd6e674