Center for Child and Adolescent Medicine and Center for Metabolic Diseases Heidelberg, Department Kinderheilkunde I, Heidelberg, Germany.
Nat Med. 2011 Dec 11;18(1):71-3. doi: 10.1038/nm.2548.
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.
先天性糖基化障碍-Ia（CDG-Ia，也称为 PMM2-CDG）是由编码磷酸甘露糖变位酶 2（PMM2，EC 5.4.2.8）的基因突变引起的，导致多系统疾病，伴有严重的精神运动和智力障碍。在低功能 Pmm2 小鼠模型中，我们通过给怀孕的母鼠喂食甘露糖来克服胚胎致死性。这些结果强调了糖基化在胚胎发育中的重要作用，并可能为这种疾病开辟新的治疗选择。
