title: Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
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.
authors.affiliation: Center for Child and Adolescent Medicine and Center for Metabolic Diseases Heidelberg, Department Kinderheilkunde I, Heidelberg, Germany.
authors.forename: Anette
authors.initials: A
authors.lastname: Schneider
authors.forename: Christian
authors.initials: C
authors.lastname: Thiel
authors.forename: Jan
authors.initials: J
authors.lastname: Rindermann
authors.forename: Charles
authors.initials: C
authors.lastname: DeRossi
authors.forename: Diana
authors.initials: D
authors.lastname: Popovici
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Gröne
authors.forename: Christian
authors.initials: C
authors.lastname: Körner
mesh_terms: D000818:Animals; D018981:Congenital Disorders of Glycosylation / Q000235:genetics / Q000378:metabolism* / Q000517:prevention & control*; D004195:Disease Models, Animal; D047108:Embryonic Development / Q000187:drug effects*; D005260:Female; D005804:Genes, Lethal; D006031:Glycosylation / Q000187:drug effects; D006801:Humans; D008358:Mannose / Q000627:therapeutic use*; D051379:Mice; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics* / Q000172:deficiency; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C513491:Pmm2 protein, mouse; D008358:Mannose