Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase

J Biol Chem. 2011 Oct 28;286(43):37515-24. doi: 10.1074/jbc.M111.287474. Epub 2011 Aug 26.

Abstract

Mucopolysaccharide (MPS) diseases are characterized by accumulation of glycosaminoglycans (GAGs) due to deficiencies in lysosomal enzymes responsible for GAG breakdown. Using a murine model of MPSI Hurler (MPSIH), we have quantified the heparan sulfate (HS) accumulation resulting from α-l-iduronidase (Idua) deficiency. HS levels were significantly increased in liver and brain tissue from 12-week-old Idua(-/-) mice by 87- and 20-fold, respectively. In addition, HS chains were shown to contain significantly increased N-, 2-O-, and 6-O-sulfation. Disaccharide compositional analyses also uncovered an HS disaccharide uniquely enriched in MPSIH, representing the terminal iduronic acid residue capping the non-reducing end of the HS chain, where no further degradation can occur in the absence of Idua. Critically, we identified that excess HS, some of which is colocalized to the Golgi secretory pathway, acts as a positive regulator of HS-sulfation, increasing the N-sulfotransferase activity of HS-modifying N-deacetylase/N-sulfotransferase enzymes. This mechanism may have severe implications during disease progression but, now identified, could help direct improved therapeutic strategies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Golgi Apparatus / genetics
  • Golgi Apparatus / metabolism*
  • Heparitin Sulfate / genetics
  • Heparitin Sulfate / metabolism*
  • Humans
  • Iduronic Acid / metabolism
  • Iduronidase*
  • Mice
  • Mice, Knockout
  • Mucopolysaccharidosis I / enzymology*
  • Mucopolysaccharidosis I / genetics
  • Sulfotransferases / genetics
  • Sulfotransferases / metabolism*

Substances

  • Iduronic Acid
  • Heparitin Sulfate
  • Sulfotransferases
  • heparitin sulfotransferase
  • Iduronidase