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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Authors | Anette Schneider, Christian Thiel, Jan Rindermann, Charles DeRossi, Diana Popovici, Georg F Hoffmann, Hermann-Josef Gröne, Christian Körner |
Journal | Nature medicine
(Nat Med)
Vol. 18
Issue 1
Pg. 71-3
(Dec 11 2011)
ISSN: 1546-170X [Electronic] United States |
PMID | 22157680
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Chemical References |
- Phosphotransferases (Phosphomutases)
- Pmm2 protein, mouse
- Mannose
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Topics |
- Animals
- Congenital Disorders of Glycosylation
(genetics, metabolism, 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)
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