DHCR7: A vital enzyme switch between cholesterol and vitamin D production

卷:64

Prabhu, Anika V. ; Luu, Winnie ; Li, Dianfan ; Sharpe, Laura J. ; Brown, Andrew J.

Univ New South Wales

关键词: 7-Dehydrocholesterol;    7-Dehydrocholesterol reductase;    Cholesterol;    Smith-Lemli-Opitz syndrome;    Vitamin D-3;   

DOI  :  10.1016/j.plipres.2016.09.003

学科分类：食品科学和技术

【 摘 要 】

The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol reductase (DHCR7). Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality, highlighting the importance of this enzyme in human development and survival. Besides serving as a substrate for DHCR7, 7-dehydrocholesterol is also a precursor of vitamin D via the action of ultraviolet light on the skin. Thus, DHCR7 exerts complex biological effects, involved in both cholesterol and vitamin D production. Indeed, we argue that DHCR7 can act as a switch between cholesterol and vitamin D synthesis. This review summarizes current knowledge about the critical enzyme DHCR7, highlighting recent findings regarding its structure, transcriptional and post-transcriptional regulation, and its links to vitamin D synthesis. Greater understanding about DHCR7 function, regulation and its place within cellular metabolism will provide important insights into its biological roles. (C) 2016 Elsevier Ltd. All rights reserved.