Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL-derived cholesterol esterification

S. J. Steinberg

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)769-774
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume19
Issue number6
Publication statusPublished - 1996
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this