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Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts.

Abstract
Biochemical and cytochemical studies have revealed that abnormal processing of low-density-lipoprotein (LDL) cholesterol can be reversed in mutant Niemann-Pick C (NP-C) fibroblasts when 2% dimethyl sulfoxide (DMSO) is added to the culture medium. Both the excessive lysosomal accumulation of LDL cholesterol and the delayed induction of cellular homeostatic responses associated with the uptake of LDL by the mutant cells were substantially reversed by DMSO. DMSO appears to accelerate the intracellular mobilization of LDL-derived cholesterol through effects that may reflect enhanced membrane permeability or cholesterol solubilization.
AuthorsE J Blanchette Mackie, N K Dwyer, M T Vanier, J Sokol, H F Merrick, M E Comly, C E Argoff, P G Pentchev
JournalBiochimica et biophysica acta (Biochim Biophys Acta) Vol. 1006 Issue 2 Pg. 219-26 (Nov 28 1989) ISSN: 0006-3002 [Print] Netherlands
PMID2688743 (Publication Type: Journal Article)
Chemical References
  • Cholesterol, LDL
  • Dimethyl Sulfoxide
Topics
  • Cells, Cultured
  • Cholesterol, LDL (metabolism)
  • Dimethyl Sulfoxide (administration & dosage, pharmacology)
  • Dose-Response Relationship, Drug
  • Fibroblasts (drug effects, metabolism, ultrastructure)
  • Fluorescent Antibody Technique
  • Histocytochemistry
  • Homeostasis (drug effects)
  • Humans
  • Lysosomes (metabolism)
  • Niemann-Pick Diseases (metabolism)

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