Article

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.

Laboratory for Genetic Metabolic Diseases (F0-224), Department of Paediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.
Biochimica et Biophysica Acta (impact factor: 4.66). 01/2001; 1529(1-3):340-56. DOI:10.1016/S1388-1981(00)00159-1 pp.340-56
Source: PubMed

ABSTRACT In recent years, several inherited human disorders caused by defects in cholesterol biosynthesis have been identified. These are characterized by malformations, multiple congenital anomalies, mental and growth retardation and/or skeletal and skin abnormalities indicating a pivotal role of cholesterol in morphogenesis and embryonic development. The first recognized and most common of these developmental disorders is Smith-Lemli-Opitz syndrome, an autosomal recessive trait caused by mutations in the DHCR7 gene resulting in a deficiency of the encoded sterol Delta(7)-reductase, alternatively called 7-dehydrocholesterol reductase (EC 1.3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta(7) double bond of 7-dehydrocholesterol to produce cholesterol.

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Keywords

autosomal recessive trait
 
common
 
defects
 
developmental disorders
 
DHCR7 gene
 
embryonic development
 
encoded sterol Delta(7)-reductase
 
growth retardation
 
inherited human disorders
 
malformations
 
multiple congenital anomalies
 
pivotal role
 
recent years
 
skeletal
 

H R Waterham