Lipases, Cholesterylesterases and Carboxylesterases in Lymphoid Cell Lines: Substrate Specificity and Relation to Wolman’s, Cholesteryl Ester Storage Diseases and Lipid Storage Myopathy
The lysosomal acid lipase hydrolyses neutral glycerides as well as cholesteryl esters1. These lipids might originate from extracellular sources (e.g. the serum lipoproteins) or be biosynthesized by the cellular enzymes. The genetic deficiency of acid lipase is the primary defect of two distinct hereditary disorders: Wolman disease and cholesteryl ester storage disease (or polycorie cholestérolique de l’adulte)2–5. Both diseases are characterized by the massive lysosomal storage of neutral lipids, but differ in clinical aspects and evolution: Wolman disease patients are affected with severe gastro-intestinal symptoms, hepatosplenomegaly, adrenal calcifications and death occurs generally in the first year of life, while cholesteryl ester storage disease is characterized by hepatosplenomegaly without adrenal invol-vement and is compatible with an adult life2,3,5.
KeywordsCholesteryl Ester Lymphoid Cell Line Acid Lipase Acyl Ester Vary Chain Length
Unable to display preview. Download preview PDF.
- 1.A.D. Patrick and B.D. Lake, Wolman’s disease, in “Lysosomes and Storage Diseases”, H.G. Hers and F. Van Hoff, eds, Academic Press, p. 453, New York (1973).Google Scholar
- 5.G. Assmann and D.S. Fredrickson, Acid lipase deficiency: Wolman’s disease and cholesteryl ester storage disease, in “The Metabolic Basis of Inherited Diseases”, J.B. Stanbury, J.B.Wyngaarden, D.S. Fredrickson, J.L. Goldstein and M.S. Brown, eds, 5th ed., p. 803, MacGraw Hill, New York (1983).Google Scholar
- 13.A. Nègre, A. Maret, R. Salvayre, G. Farré, L. Douste-Blazy and S. Gatt, Use of fluorescent fatty acids for labelling acid lipase-deficient cells, in: “Enzymes of Lipid Metabolism”, L. Freysz and S. Gatt, eds (joined paper).Google Scholar
- 15.J.L. Goldstein and M.S. Brown, Familial hypercholesterolemia, in: “The Metabolic Basis of Inherited Diseases”, J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, J.L. Goldstein and M.S. Brown, eds, 5th ed., p. 672, MacGraw Hill, New York (1983).Google Scholar
- 18.J.K. Huttunen, Adipose tissue lipases and their hormonal regulation, Scand. J. Clin. Lab. Invest. 29: 3. 1a (1972).Google Scholar