Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

Nat Med. 2011 Dec 11;18(1):71-3. doi: 10.1038/nm.2548.

Abstract

Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC 5.4.2.8) leading to a multisystemic disease with severe psychomotor and mental retardation. In a hypomorphic Pmm2 mouse model, we were able to overcome embryonic lethality by feeding mannose to pregnant dams. The results underline the essential role of glycosylation in embryonic development and may open new treatment options for this disease.

Publication types

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

MeSH terms

  • Animals
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / metabolism*
  • Congenital Disorders of Glycosylation / prevention & control*
  • Disease Models, Animal
  • Embryonic Development / drug effects*
  • Female
  • Genes, Lethal
  • Glycosylation / drug effects
  • Humans
  • Mannose / therapeutic use*
  • Mice
  • Phosphotransferases (Phosphomutases) / genetics*
  • Pregnancy
  • Prenatal Care / methods*

Substances

  • Phosphotransferases (Phosphomutases)
  • Pmm2 protein, mouse
  • Mannose

Supplementary concepts

  • Congenital disorder of glycosylation type 1A