Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology

J Inherit Metab Dis. 2017 Mar;40(2):281-289. doi: 10.1007/s10545-016-9988-z. Epub 2016 Oct 14.

Abstract

Mucopolysaccharidosis type I (MPS IH) is a lysosomal storage disease (LSD) caused by inactivating mutations to the alpha-L-iduronidase (IDUA) gene. Treatment focuses on IDUA enzyme replacement and currently employed methods can be non-uniform in their efficacy particularly for the cardiac and craniofacial pathology. Therefore, we undertook efforts to better define the pathological cascade accounting for treatment refractory manifestations and demonstrate a role for the renin angiotensin system (RAS) using the IDUA-/- mouse model. Perturbation of the RAS in the aorta was more profound in male animals suggesting a causative role in the observed gender dimorphism and angiotensin receptor blockade (ARB) resulted in improved cardiac function. Further, we show the ability of losartan to prevent shortening of the snout, a common craniofacial anomaly in IDUA-/- mice. These data show a key role for the RAS in MPS associated pathology and support the inclusion of losartan as an augmentation to current therapies.

Publication types

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

MeSH terms

  • Angiotensin Receptor Antagonists / pharmacology*
  • Animals
  • Craniofacial Abnormalities / drug therapy
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology*
  • Disease Models, Animal
  • Female
  • Heart Diseases / drug therapy
  • Heart Diseases / genetics
  • Heart Diseases / pathology*
  • Iduronidase / genetics
  • Losartan / pharmacology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mucopolysaccharidosis I / drug therapy*
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / pathology
  • Mutation / drug effects
  • Mutation / genetics
  • Receptors, Angiotensin / metabolism
  • Renin-Angiotensin System / drug effects
  • Renin-Angiotensin System / genetics

Substances

  • Angiotensin Receptor Antagonists
  • Receptors, Angiotensin
  • Iduronidase
  • Losartan