Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome.
We have identified the third unknown sterol in the plasma and tissues of Smith-Lemli-Opitz homozygotes as 19-nor-5,7,9(10)-cholestatrien-3 beta-ol. The structure was established from capillary gas-liquid chromatography retention index and characteristic fragmentation pattern by mass spectrometry that were identical to a synthetic reference standard. Evidence is presented that 19-nor-5,7,9(10)-cholestatrien-3 beta-ol is not an artifact formed during the chemical isolation of the relatively unstable 7-dehydrocholesterol. It is possible that 19-nor-5,7,9(10)-cholestatrien-3 beta-ol may contribute to the clinical abnormalities in patients with Smith-Lemli-Opitz syndrome.
Batta
A K
AK
Department of Medicine, University of Medicine and Dentistry-New Jersey Medical School, Newark, USA.
Salen
G
G
Tint
G S
GS
Shefer
S
S
D002775:Cholestadienols / Q000097:blood / Q000378:metabolism*; D002782:Cholestenes / Q000032:analysis* / Q000097:blood; D002784:Cholesterol / Q000378:metabolism; D003684:Dehydrocholesterols / Q000097:blood / Q000378:metabolism*; D006801:Humans; D013058:Mass Spectrometry; D015394:Molecular Structure; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000378:metabolism*
C099829:19-nor-5,7,9(10)-cholestatrien-3-ol; D002775:Cholestadienols; D002782:Cholestenes; D003684:Dehydrocholesterols; C026359:cholesta-5,8-dien-3 beta-ol; D002784:Cholesterol; C016705:7-dehydrocholesterol