Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice
A Schneider, C Thiel, J Rindermann, C DeRossi… - Nature medicine, 2012 - nature.com
A Schneider, C Thiel, J Rindermann, C DeRossi, D Popovici, GF Hoffmann, HJ Gröne…
Nature medicine, 2012•nature.comCongenital 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.
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.
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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