Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis

PM Elias, ML Williams, EH Choi, KR Feingold - Biochimica et Biophysica …, 2014 - Elsevier
PM Elias, ML Williams, EH Choi, KR Feingold
Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids, 2014Elsevier
X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to
deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the
short area of the X chromosome. Syndromic features are mild or unapparent unless
contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by
cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together
forming a 'cholesterol sulfate cycle'that potently regulates epidermal differentiation, barrier …
Abstract
X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a ‘cholesterol sulfate cycle’ that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈ 1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias.
Elsevier