| Abnormal sterol metabolism in holoprosencephaly. | |
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MedLine Citation:
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PMID: 20104605 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The HPE phenotype is extremely variable and the etiology is heterogeneous. Among a variety of embryological toxins that can induce HPE, inhibitors, and other pertubations of cholesterol biosynthesis have been shown to be important factors, most likely because cholesterol is required in the Sonic hedgehog signaling cascade. Decreased levels of maternal cholesterol during pregnancy increase the risk for preterm delivery, but they are not associated with congenital malformations. However, if the fetus is affected by an inborn error of endogenous cholesterol synthesis, a reduction of maternal cholesterol concentration and cholesterol transport over the placenta aggravates the phenotypic expression. Exposure to lipophilic statins in early pregnancy may be associated with a substantial risk for structural CNS defects. |
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Authors:
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Dorothea Haas; Maximilian Muenke |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural; Review |
Journal Detail:
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Title: American journal of medical genetics. Part C, Seminars in medical genetics Volume: 154C ISSN: 1552-4876 ISO Abbreviation: Am J Med Genet C Semin Med Genet Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-02-01 Completed Date: 2010-03-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235745 Medline TA: Am J Med Genet C Semin Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 102-8 Citation Subset: IM |
Copyright Information:
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2010 Wiley-Liss, Inc. |
Affiliation:
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University Children's Hospital of Heidelberg, Germany. dorothea.haas@med.uni-heidelberg.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cholesterol / biosynthesis, physiology Female Hedgehog Proteins / metabolism, physiology Holoprosencephaly / embryology, etiology*, metabolism* Humans Metabolic Diseases / complications Models, Biological Pregnancy Pregnancy Complications / metabolism Prenatal Exposure Delayed Effects / metabolism Prosencephalon / metabolism Signal Transduction / physiology Sterols / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Hedgehog Proteins; 0/SHH protein, human; 0/Sterols; 57-88-5/Cholesterol |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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