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Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL‐receptor‐mediated endocytosis
Author(s) -
Jansen S. M.,
Groener J. E. M.,
Bax W.,
Poorthuis B. J. H. M.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012467827719
Subject(s) - mucolipidosis , endocytosis , niemann–pick disease, type c , ldl receptor , endosome , chemistry , endocrinology , lysosome , medicine , lysosomal storage disease , intracellular , lipoprotein , receptor , biochemistry , biology , cholesterol , enzyme
We specifically probed the low‐density lipoprotein‐receptor‐dependent endosomal/lysosomal pathway of lipid degradation in control and mucolipidosis type IV fibroblasts using either [choline‐ methyl ‐ 14 C]sphingo‐myelin in complex with apolipoprotein E, or cholesteryl [ 14 C]oleate‐labelled low‐density lipoprotein as a substrate. Mucolipidosis type IV fibroblasts metabolized [ 14 C]sphingomyelin and cholesteryl [ 14 C]oleate significantly more slowly than controls and fibroblasts from patients with Hurler disease or Niemann–Pick disease type C. So far, no lysosomal enzyme deficiency has been reported for mucolipidosis type IV. Rather, the defect in mucolipidosis type IV cells has recently been suggested to be related to intracellular trafficking. Our results suggest that the defect in mucolipidosis type IV also affects the low‐density lipoprotein‐receptor‐mediated endocytosis pathway.