Document Detail


Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.
MedLine Citation:
PMID:  17378665     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Systemic fetal dysmorphogenesis in disorders of postsqualene cholesterol biosynthesis is thought to be caused by disruption of Hedgehog signaling. Because precholesterol sterols such as 7-dehydrocholesterol and lathosterol can replace cholesterol in the activation of Hedgehog proteins, it is currently believed that cholesterol deficiency-related Hedgehog signaling block occurs further downstream, probably at the level of Smoothened. Experimentally, such a block in Hedgehog signaling occurs at sterol levels of <40 mug/mg protein. Recently, we studied autopsy material from 2 infants with fatal cholesterol biosynthetic disorders (Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata) in which the hepatic cholesterol levels were far greater. In this study, we demonstrate abnormal accumulation of sterol precursors of cholesterol in membrane lipid rafts (detergent resistance membranes) prepared from liver tissues of these 2 infants: 8-dehydrocholesterol and 7-dehydrocholesterol in lipid rafts of the infant with Smith-Lemli-Opitz syndrome and cholest-8(9)-ene-3beta-ol in lipid rafts of the infant with X-linked dominant chondrodysplasia punctata. We suggest that such alterations in the lipid raft sterol environment may affect the biology of cells and the development of fetuses with cholesterol biosynthetic disorders.
Authors:
Dinesh Rakheja; Richard L Boriack
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Publication Detail:
Type:  Journal Article     Date:  2007-03-22
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  11     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2008 Mar-Apr
Date Detail:
Created Date:  2008-04-29     Completed Date:  2008-06-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  128-32     Citation Subset:  IM    
Affiliation:
Department of Pathology, Children's Medical Center, Dallas, TX, USA. dinesh.rakheja@utsouthwestern.edu
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MeSH Terms
Descriptor/Qualifier:
Cholestadienols / analysis,  metabolism
Cholesterol / analysis,  biosynthesis*,  metabolism
Chondrodysplasia Punctata / genetics,  metabolism*,  pathology
Dehydrocholesterols / analysis,  metabolism
Female
Genetic Diseases, X-Linked / genetics,  metabolism*,  pathology
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors / genetics,  metabolism*,  pathology
Liver / metabolism
Membrane Microdomains / chemistry,  metabolism
Smith-Lemli-Opitz Syndrome / genetics,  metabolism*,  pathology
Syndrome
Chemical
Reg. No./Substance:
0/Cholestadienols; 0/Dehydrocholesterols; 434-16-2/7-dehydrocholesterol; 57-88-5/Cholesterol; 70741-38-7/cholesta-5,8-dien-3 beta-ol; 80-99-9/lathosterol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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