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Journal of Lipid Research, Vol 37, 2433-2438, Copyright © 1996 by Lipid Research, Inc.
M Honda, GS Tint, A Honda, AK Batta, TS Chen, S Shefer and G Salen
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 than the transformation of
[3H]7-dehydrocholesterol to [3H] cholesterol, cells from control subjects
produced brassicasterol efficiently. In contrast, cells form SLO patients
produced very little brassicasterol (P < 0.0001, patients vs. parents or
vs. controls). These results indicate that the reduction of ergosterol can
be used as an assay for 3 beta- hydroxysteroid delta 7-reductase in human
skin fibroblasts, which avoids the many problems caused by the instability
and lack of availability of radiolabeled 7-dehydrocholesterol. The present
method made it possible to diagnose the SLO syndrome with high sensitivity
and reliability using a commercially available compound.
ARTICLES
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 Smith-Lemli-Opitz syndrome
Department of Medicine, Veterans Affairs Medical Center, East Orange, NJ 07018, USA.
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