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Broad screening test for sphingolipid-storage diseases.

C S Chen1, M C Patterson, C L Wheatley

  • 1Department of Biochemistry and Molecular Biology, Mayo Clinic and Foundation, Rochester, MN 55905-0001, USA.

Lancet (London, England)
|September 18, 1999
PubMed
Summary
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A novel fluorescent lipid assay effectively screens for various lipid-storage diseases by detecting abnormal lysosomal accumulation. This method shows high accuracy and potential for drug screening to treat these debilitating conditions.

Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Lipid-storage diseases cause significant morbidity and mortality, presenting with diverse neurological and developmental symptoms.
  • Current diagnostic methods lack a universal initial screening assay for these complex disorders.

Purpose of the Study:

  • To develop and validate a novel fluorescent assay for initial screening of lipid-storage diseases.
  • To investigate the utility of BODIPY-LacCer for identifying cellular lipid accumulation patterns.

Main Methods:

  • Utilized N-[5-(5,7-dimethylborondipyrromethenedifluoride)-1-pentanoyl]D-lactosylsphingosine (BODIPY-LacCer), a fluorescent lactosylceramide analogue.
  • Examined intracellular lipid distribution in living cells by monitoring fluorescence emission changes.
  • Conducted pulse-chase experiments and a masked study using patient-derived fibroblasts.

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Main Results:

  • BODIPY-LacCer accumulated in lysosomes of fibroblasts from patients with multiple types of lipid-storage diseases.
  • In control cells, the fluorescent lipid remained primarily in the Golgi complex.
  • The assay demonstrated high diagnostic accuracy, with 96.2% sensitivity and 90.0% specificity in identifying disease and control cell lines.

Conclusions:

  • The BODIPY-LacCer assay shows promise as an initial general screening tool for lipid-storage diseases.
  • The method could be adapted for automated, large-scale drug screening to target lysosomal storage.
  • Observed common accumulation patterns suggest shared cellular dysfunction mechanisms across distinct lipid-storage disorders.