✦ LIBER ✦

New spectrophotometric assays of acid lipase and their use in the diagnosis of wolman and cholesteryl ester storage diseases

✍ Scribed by Anne Nègre; Robert Salvayre; Arie Dagan; Carla Borrone; Shimon Gatt

Publisher: Elsevier Science
Year: 1985
Tongue: English
Weight: 572 KB
Volume: 145
Category: Article
ISSN: 0003-2697
DOI: 10.1016/0003-2697(85)90380-x

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✦ Synopsis

Trinitrophenylaminolauric acid (TNPAL) was linked to glycerol or cholesterol and the resulting yellow compounds were used as substrates for several lipases and cholesteryl esterase in cells from normal individuals and patients with Wolman's or cholesteryl ester storage diseases. Normal cells (lymphoid cell lines or skin fibroblasts) showed two peaks of lipase or cholesteryl esterase activity at about pH 4.0 and 6.0 each. The activity of the most acidic enzyme, which hydrolyzed natural or synthetic triacylglycerols as well as cholesteryl esters, was considerably reduced in cells derived from patients with Wolman's or cholesteryl ester storage diseases. Simple spectrophotometric procedures were developed for using tri-TNPAL glycerol or TNPAL cholesterol to identify homozygotes of these two respective diseases.

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Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity of lysosomal acid lipase (LAL), that leads to the tissue accumulation of cholesteryl esters in endosomes and lysosomes. WD is caused by genetic defects of LAL that