Document Detail

The function of cholesterol in embryogenesis.
MedLine Citation:
PMID:  15539288     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Cholesterol is critical in embryonic development. Inhibition of cholesterol synthesis in experimental animals has caused a birth defect called holoprosencephaly (HPE), which is evidenced by cyclopia (one eye in the middle of the face), monorhinia (protruding single nose above the eye), absence of the pituitary gland, and central nervous system (CNS) abnormalities. In humans, an inherited defect in the cholesterol-synthesizing enzyme 7-dehydrocholesterol reductase depletes cholesterol and results in human HPE, termed Smith-Lemli-Opitz syndrome. In its most severe form, the syndrome leads to cyclopia, monorhinia, and lack of separation of cerebral hemispheres. The cause of the syndrome is a defect in a protein coded by the gene Sonic hedgehog (SHH). The protein SHH is expressed in the notochord of the CNS in the early embryo and is activated by being cleaved autocatalytically, with simultaneous covalent attachment of cholesterol to the N-terminal fragment, which is secreted by cells of the mesoderm layer, signaling the establishment of the neural midline cells. Thus, cholesterol is essential for proper signaling in the development of the normal embryo.
G Wolf
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of nutritional biochemistry     Volume:  10     ISSN:  0955-2863     ISO Abbreviation:  J. Nutr. Biochem.     Publication Date:  1999 Apr 
Date Detail:
Created Date:  2004-11-12     Completed Date:  2005-03-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9010081     Medline TA:  J Nutr Biochem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  188-92     Citation Subset:  -    
Department of Nutritional Sciences, University of California, Berkeley, CA 94720, USA.
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