Stbd1 is highly elevated in skeletal muscle of Pompe disease mice but suppression of its expression does not affect lysosomal glycogen accumulation

Mol Genet Metab. 2013 Jul;109(3):312-4. doi: 10.1016/j.ymgme.2013.05.004. Epub 2013 May 18.

Abstract

Previous studies strongly suggest that starch binding domain containing protein 1 (Stbd1) plays an important role in intracellular glycogen trafficking into lysosomes. We report here that Stbd1 expression is markedly increased in skeletal muscles but not in heart and liver of GAA-KO mice. An AAV2/9 vector expressing a Stbd1-specific shRNA effectively suppressed Stbd1 expression but did not alter lysosomal glycogen accumulation in the affected tissues of GAA-KO mice. Our results indicate that inhibition of Stbd1 does not appear to be an effective therapeutic approach for Pompe disease.

MeSH terms

  • Animals
  • Cell Line
  • Disease Models, Animal
  • Gene Expression Regulation
  • Gene Knockdown Techniques
  • Glycogen / metabolism*
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / metabolism*
  • Humans
  • Lysosomes / metabolism*
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism*
  • Mice
  • Mice, Knockout
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / metabolism*
  • RNA Interference

Substances

  • Membrane Proteins
  • Muscle Proteins
  • starch-binding domain-containing protein 1, mouse
  • Glycogen