Successful Prenatal Mannose Treatment for Congenital Disorder of Glycosylation-Ia in Mice

Overview

Journal Nat Med

Specialties General Medicine
Molecular Biology

Date 2011 Dec 14

PMID 22157680

Citations 53

Authors

Anette Schneider

Christian Thiel

Jan Rindermann

Charles DeRossi

Diana Popovici

Georg F Hoffmann

Hermann-Josef Grone

Christian Korner

Affiliations

Soon will be listed here.

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.

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