Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice
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DOI：
10.1038/nm.2548
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发表时间：
2012-01-01
期刊：
影响因子：
82.9
通讯作者：
Koerner, Christian
中科院分区：
文献类型：
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作者：
Schneider, Anette;Thiel, Christian;Koerner, Christian
先天性糖基化-Ia障碍（CDG-Ia，也称为PMM 2-CDG）是由编码磷酸甘露变位酶2（PMM 2，EC 5.4.2.8）的基因突变引起的，导致具有严重精神错乱和智力迟钝的多系统疾病。在亚纯型Pmm 2小鼠模型中，我们能够通过向妊娠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。
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.