| Malformation syndromes caused by disorders of cholesterol synthesis. | |
| | |
MedLine Citation:
|
PMID: 20929975 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. |
| | |
Authors:
|
Forbes D Porter; Gail E Herman |
Related Documents
:
|
9881645 - Antihypercholesterolemic action of a traditional chinese medicine (kampo medicine), ogi... 10540745 - Effects of a probiotic on the lipid metabolism of cocks fed on a cholesterol-enriched d... 3990525 - Influence of dietary cholesterol on the relative synthesis of hepatic glycerides and mo... 7292535 - Effect of estrogens on beta-hydroxy-beta-methylglutaryl coenzyme a reductase activity a... 22142775 - Diet-dependent net endogenous acid load of vegan diets in relation to food groups and b... 12780345 - Effects of two lipid-lowering, carotenoid-controlled diets on the oxidative modificatio... |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Review Date: 2010-10-07 |
Journal Detail:
|
Title: Journal of lipid research Volume: 52 ISSN: 0022-2275 ISO Abbreviation: J. Lipid Res. Publication Date: 2011 Jan |
Date Detail:
|
Created Date: 2010-12-14 Completed Date: 2011-06-21 Revised Date: 2012-01-02 |
Medline Journal Info:
|
Nlm Unique ID: 0376606 Medline TA: J Lipid Res Country: United States |
Other Details:
|
Languages: eng Pagination: 6-34 Citation Subset: IM |
Affiliation:
|
Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. fdporter@mail.nih.gov |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
etiology,
genetics,
metabolism Animals Cholesterol / biosynthesis* Chondrodysplasia Punctata / etiology, genetics, metabolism Congenital Abnormalities / etiology* Humans Lipid Metabolism, Inborn Errors / complications*, etiology, genetics, metabolism Oxidoreductases Acting on CH-CH Group Donors / deficiency, genetics, metabolism Smith-Lemli-Opitz Syndrome / etiology, genetics, metabolism Steroid Metabolism, Inborn Errors Syndrome |
| Grant Support | |
ID/Acronym/Agency:
|
HD38572/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
|
57-88-5/Cholesterol; EC 1.3.-/Oxidoreductases Acting on CH-CH Group Donors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Smelling chemosensory signals of males in anxious versus nonanxious condition increases state anxiet...
Next Document: Direct recruitment of insulin receptor and ERK signaling cascade to insulin-inducible gene loci.