Abstract
Niemann-Pick disease type C (NPC) is a neurovisceral storage disorder with an unknown primary deficiency. Somatic cell hybridization experiments using human cultured fibroblasts have shown that two complementation groups (NPC-α and NPC-β) are associated with the biochemical and clinical phenotypes comprising NPC. We identified the rarer complementation group NPC-β originally using the technique of filipin staining as a marker for complementation. In this study we show that the esterification of cholesterol derived from the LDL pathway can be used as an isotopic assay. However, multinuclear hybrids exhibit a delayed induction in this pathway. Furthermore, we discovered that, in the presence of an LDL source, co-cultivation of fibroblasts belonging to NPC-α and NPC-β stimulated cholesterol esterification.
Original language | English (US) |
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Pages (from-to) | 769-774 |
Number of pages | 6 |
Journal | Journal of Inherited Metabolic Disease |
Volume | 19 |
Issue number | 6 |
DOIs | |
State | Published - Jan 1 1996 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)