Résumé
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology, characterized by defective egress of cholesterol from lysosomes. Here we show that the disease is caused by a deficiency in HE1, a ubiquitously expressed lysosomal protein identified previously as a cholesterol-binding protein. HE1 was undetectable in fibroblasts from NP-C2 patients but present in fibroblasts from unaffected controls and NP-C1 patients. Mutations in the HE1 gene, which maps to chromosome 14q24.3, were found in NP-C2 patients but not in controls. Treatment of NP-C2 fibroblasts with exogenous recombinant HE1 protein ameliorated lysosomal accumulation of low density lipoprotein-derived cholesterol.
langue originale | Anglais |
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Pages (de - à) | 2298-2301 |
Nombre de pages | 4 |
journal | Science |
Volume | 290 |
Numéro de publication | 5500 |
Les DOIs | |
Etat de la publication | Publié - 22 déc. 2000 |