Cholesterol Sulfate: Pathophysiological Implications and Potential Therapeutics DOI Creative Commons
Xiaoqian Yu, Si-Man Lei, Ying Shen

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(5), P. 646 - 646

Published: April 30, 2025

Cholesterol sulfate (CS) is a naturally occurring cholesterol derivative that widely distributed across various tissues and body fluids. In humans, its biosynthesis primarily mediated by the sulfotransferase (SULT) 2B1b (SULT2B1b). Over years, CS has been found to play critical roles in physiological processes, including epidermal cell adhesion, sperm capacitation, platelet coagulation, glucolipid metabolism, bone gut microbiota neurosteroid biosynthesis, T-cell receptor signaling, immune migration. this review, we first introduce endogenous regulation of metabolism. We then highlight current advances understanding CS. Finally, delve into implications diseases, with particular focus on mechanism action potential therapeutic applications. A comprehensive CS’s function, regulation, role as disease modifier offers novel insights could pave way for innovative strategies targeting wide range conditions.

Language: Английский

Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans DOI Open Access
Luz María González-Huerta,

Francisco Gabino Zúñiga-Rodríguez,

Valeria Isabel Valerio-Gómez

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(4), P. 380 - 380

Published: March 27, 2025

Background/Objective: Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin (FLG) gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence 1 80–250 children. The phenotypic characteristics include palmar hyperlinearity, keratosis pilaris, and fine scale that most prominent over lower abdomen, arms, legs. Our objective was study genetic FLG their associations patients with ichthyosis vulgaris. Material methods: Here, we studied eighteen Mexican sporadic cases four family members IV. Steroid sulfatase (STS) enzymatic activity, polymerase chain reaction (PCR), direct sequencing were conducted. Results: We found recurrent variant R501* fifteen cases, while other three showed novel (p.Q2123R, p.H2118R, p.D2120E, p.S3970L) one reported (p.Y2119H) variant; of 2 presented homozygous (p.S1482Y, p.P2144S) variants. Conclusions: This added pathogenic IV stop mutations (p.R501*) population are prevalent.

Language: Английский

Citations

0
Cholesterol Sulfate: Pathophysiological Implications and Potential Therapeutics DOI Creative Commons
Xiaoqian Yu, Si-Man Lei, Ying Shen

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(5), P. 646 - 646

Published: April 30, 2025

Cholesterol sulfate (CS) is a naturally occurring cholesterol derivative that widely distributed across various tissues and body fluids. In humans, its biosynthesis primarily mediated by the sulfotransferase (SULT) 2B1b (SULT2B1b). Over years, CS has been found to play critical roles in physiological processes, including epidermal cell adhesion, sperm capacitation, platelet coagulation, glucolipid metabolism, bone gut microbiota neurosteroid biosynthesis, T-cell receptor signaling, immune migration. this review, we first introduce endogenous regulation of metabolism. We then highlight current advances understanding CS. Finally, delve into implications diseases, with particular focus on mechanism action potential therapeutic applications. A comprehensive CS’s function, regulation, role as disease modifier offers novel insights could pave way for innovative strategies targeting wide range conditions.

Language: Английский

Citations

0