期刊
PROGRESS IN LIPID RESEARCH
卷 64, 期 -, 页码 138-151出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.plipres.2016.09.003
关键词
7-Dehydrocholesterol; 7-Dehydrocholesterol reductase; Cholesterol; Smith-Lemli-Opitz syndrome; Vitamin D-3
资金
- 1000 Young Talent Program
- Shanghai Pujiang Talent Program [15PJ1409400]
- National Natural Science Foundation of China [31570748]
- National Health and Medical Research Council [1060515]
- University of New South Wales
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.
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