Mutations in SULT2B1 Tied to Ichthyosis in Humans

Share this content:
Mutations in <i>SULT2B1</i> Tied to Ichthyosis in Humans
Mutations in SULT2B1 Tied to Ichthyosis in Humans

MONDAY, June 5, 2017 (HealthDay News) -- Scientists have discovered another gene mutation behind certain cases of autosomal-recessive congenital ichthyosis (ARCI), according to a report published in the June 1 issue of the American Journal of Human Genetics.

Keith Choate, M.D., Ph.D., of the Yale University School of Medicine in New Haven, Conn., and colleagues utilized whole-exome sequencing and multigene panel screening to identify four distinct mutations in ARCI, including missense, nonsense, and splice site mutations.

The team noted loss of SULT2B1 expression at RNA and protein levels in keratinocytes. They then reconstructed the morphologic skin alterations in a three-dimensional organotypic tissue culture model with SULT2B1-deficient keratinocytes and fibroblasts. Using thin layer chromatography, they demonstrated absence of cholesterol sulfate, and an increased level of cholesterol.

"Our study reveals an essential role for SULT2B1 in the proper development of healthy human skin," the authors write. "Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism."

Abstract/Full Text (subscription or payment may be required)

Share this content:

is free, fast, and customized just for you!




Already a member?

Sign In Now »

Drug Lookup

Browse drugs by: BrandGenericDisease



Sign up for myCME e-newsletters




More in Home

Medicaid Expansion Ups Preemptive Listing for Kidney Transplant

Medicaid Expansion Ups Preemptive Listing for Kidney Transplant

From pre- to post-expansion period, 59 percent relative increase in Medicaid-covered preemptive listings

BCG Vaccine Tied to Reduced Hyperglycemia in Type 1 Diabetes

BCG Vaccine Tied to Reduced Hyperglycemia in Type ...

Systemic shift in glucose metabolism from oxidative phosphorylation to aerobic glycolysis

Many Physicians Not Prepared for End-of-Life Talks With Patients

Many Physicians Not Prepared for End-of-Life Talks With ...

Additional training, reimbursement may foster these critical conversations, authors say

is free, fast, and customized just for you!




Already a member?

Sign In Now »