7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts
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منابع مشابه
7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts.
The Smith-Lemli-Opitz syndrome (SLOS) is a common birth defect-mental retardation syndrome caused by a defect in the enzyme that reduces 7-dehydrocholesterol to cholesterol. Because of this block, patients' plasma cholesterol levels are generally low while 7-dehydrocholesterol concentrations are markedly elevated. In addition, plasma total sterols are abnormally low and correlate negatively wit...
متن کاملDefective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.
The Smith-Lemli-Opitz syndrome is a common birth defect syndrome characterized biochemically by low plasma cholesterol levels and high concentrations of the cholesterol precursor 7-dehydrocholesterol. The present study was undertaken to prove that the enzyme defect is at the step in which 7-dehydrocholesterol is converted into cholesterol and to establish a new biochemical method for the diagno...
متن کاملPeroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS), caused by 7-dehydrocholesterol-reductase (DHCR7) deficiency, shows variable severity independent of DHCR7 genotype. To test whether peroxisomes are involved in alternative cholesterol synthesis, we used [1-(14)C]C24:0 for peroxisomal beta-oxidation to generate [1-(14)C]acetyl-CoA as cholesterol precursor inside peroxisomes. The HMG-CoA reductase inhibitor lova...
متن کاملSmith-Lemli-Opitz syndrome
Mayeda K, Weiss L, Lindahl R, Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Ain J Humn Genet 1974:26:59-64. 2 Kivlin JD, Fineman RM, Williams MS. Phenotype variation in the del(12p) syndrome. Am J Med Genet 1985;22:769-79. 3 Magenis E, Brown M G. Chamberlin J. et al. Resolution of breakpoints in a complex rearrangement by use of multiple stai...
متن کامل7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of cholesterol synthesis. Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developmental malformations. Among them, renal agenesis or hypoplasia, decreased innervation of the gut, and ptosis are consistent with impaired Ret signaling. Ret is a receptor tyrosine kinase that achieves full activity whe...
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ژورنال
عنوان ژورنال: Journal of Lipid Research
سال: 1998
ISSN: 0022-2275
DOI: 10.1016/s0022-2275(20)33302-2