Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groupsα andβ stimulates LDL-derived cholesterol esterification

SJ Steinberg, D Mondal, AH Fensom - Journal of inherited metabolic …, 1996 - Springer
SJ Steinberg, D Mondal, AH Fensom
Journal of inherited metabolic disease, 1996Springer
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 …
Summary
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.
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