GEX1A, a Polyketide from Streptomyces chromofuscus, Corrects the Cellular Defects Associated with Niemann-Pick Type C1 in Human Fibroblasts

J Nat Prod. 2018 Sep 28;81(9):2018-2025. doi: 10.1021/acs.jnatprod.8b00314. Epub 2018 Sep 6.

Abstract

We report the first evidence of GEX1A, a polyketide known to modulate alternative pre-mRNA splicing, as a potential treatment for Niemann-Pick type C disease. GEX1A was isolated from its producing organism, Streptomyces chromofuscus, and screened in NPC1 mutant cells alongside several semisynthetic analogues. We found that GEX1A and analogues are capable of restoring cholesterol trafficking in NPC1 mutant fibroblasts, as well as altering the expression of NPC1 isoforms detected by Western blot. These results, along with the compound's favorable pharmacokinetic properties, highlight the potential of spliceosome-targeting scaffolds such as GEX1A for the treatment of genetic diseases.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Line
  • Cholesterol / metabolism
  • Fatty Alcohols / chemistry
  • Fatty Alcohols / pharmacology*
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism
  • Humans
  • Molecular Structure
  • Niemann-Pick Disease, Type C / drug therapy*
  • Polyketides / chemistry
  • Polyketides / pharmacology*
  • Protein Biosynthesis / drug effects
  • Pyrans / chemistry
  • Pyrans / pharmacology*
  • Streptomyces / chemistry*

Substances

  • Fatty Alcohols
  • Polyketides
  • Pyrans
  • herboxidiene
  • Cholesterol