Measurement of 3 beta-hydroxysteroid delta 7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the …
M Honda, GS Tint, A Honda, AK Batta, TS Chen… - Journal of lipid …, 1996 - ASBMB
A new sensitive and specific method for the evaluation of 3 beta-hydroxysteroid delta 7-
reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is
described. The assay is based on the use of gas chromatography-mass spectrometry with
selected-ion monitoring to measure the mass of brassicasterol (ergosta-5, 22-dien-3 beta-ol)
produced by the incubation of ergosterol (ergosta-5, 7, 22-trien-3 beta-ol) with cultured
human skin fibroblasts. Although the conversion of ergosterol to brassicasterol was slower …
reductase activity, the defective enzyme in the Smith-Lemli-Opitz (SLO) syndrome, is
described. The assay is based on the use of gas chromatography-mass spectrometry with
selected-ion monitoring to measure the mass of brassicasterol (ergosta-5, 22-dien-3 beta-ol)
produced by the incubation of ergosterol (ergosta-5, 7, 22-trien-3 beta-ol) with cultured
human skin fibroblasts. Although the conversion of ergosterol to brassicasterol was slower …