Fmr-1 as an offspring genetic and a maternal environmental factor in neurodevelopmental disease.
Fmr-1 as an offspring genetic and a maternal environmental factor in neurodevelopmental disease.
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Fmr-1 作为神经发育疾病中的后代遗传因素和母体环境因素。
DOI：
10.1007/978-3-642-21649-7_13
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发表时间：
2012
影响因子：
--
通讯作者：
Toth,Miklos
中科院分区：
文献类型：
--
作者：
Zupan,Bojana;Toth,Miklos
由于脆性X综合征（FXS）是一种典型的X连锁孟德尔疾病，与疾病相关的蛋白质产物（FMRP）不仅在受影响的个体中缺失或减少，而且在完全突变的情况下，也在其母亲中缺失或减少。在这里，通过使用小鼠模型的疾病，我们提供的证据表明，多动症，FXS的典型症状，并不完全是由缺乏Fmrp在小鼠中，但也发生作为其在其母亲的表达减少的结果。突变母亲的野生型后代也有多动症，尽管没有突变后代那么明显。然而，在小鼠模型中再现的FXS的其他特征，如感觉高反应性和癫痫易感性，仅与后代中Fmrp的缺乏相关。这些数据表明，fmr-1，编码Fmrp的基因，可以是后代的遗传和母体的环境因素，在产生神经发育条件。
Since fragile X syndrome (FXS) is a typical X-linked mendelian disorder, the protein product associated with the disease (FMRP) is absent or reduced not only in the affected individuals but, in case of full mutation, also in their mothers. Here, by using the mouse model of the disease, we provide evidence that hyperactivity, a typical symptom of FXS, is not wholly induced by the lack of Fmrp in mice but also occurs as a result of its reduced expression in their mother. Genetically wild-type offspring of mutant mothers also had hyperactivity, albeit less pronounced than the mutant offspring. However, other features of FXS reproduced in the mouse model, such as sensory hyperreactivity and seizure susceptibility, were exclusively associated with the absence of Fmrp in the offspring. These data indicate thatfmr-1, the gene encoding Fmrp, can be both an offspring genetic and a maternal environmental factor in producing a neurodevelopmental condition.