TITLE

Cholesterol precursors and facial clefting

AUTHOR(S)
Porter, Forbes D.
PUB. DATE
September 2006
SOURCE
Journal of Clinical Investigation;Sep2006, Vol. 116 Issue 9, p2322
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor levels are present during embryogenesis. It has been debated whether the malformations result from low cholesterol or the buildup of sterol precursors. In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356).
ACCESSION #
23334977

 

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