Towards the understanding of Down syndrome using mouse models
Towards the understanding of Down syndrome using mouse models
复制标题
使用小鼠模型了解唐氏综合症
DOI：
10.1111/j.1741-4520.2012.00367.x
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发表时间：
2012
影响因子：
1.3
通讯作者：
Kazuhiro Yamakawa
中科院分区：
文献类型：
--
作者：
Choocheep K;Hatano S;Takagi H;Watanabe H;Kimata K;Kongtawelert P;Watanabe H;Kazuhiro Yamakawa
唐氏综合症（DS）是智力迟钝的最常见原因。目前已经建立了几种与人类21号染色体同源的部分16三体DS小鼠模型，本课题组一直在对这些小鼠模型进行研究。我们已经显示了小鼠三体区域中基因的剂量依赖性过表达。我们还描述了这些小鼠的异常，包括氧化应激增加、脂质过氧化增加、线粒体功能障碍、tau蛋白过度磷酸化及其磷酸酶过度活化、发育和成年神经发生受损、脑组织学异常，包括脑室扩大和轻微神经变性。这些观察结果可能有助于识别负责基因和了解唐氏综合征的分子病理学。
Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage‐dependent overexpression of genes in the trisomic region of the mouse. We have also described abnormalities including increased oxidative stress, increased lipid peroxidation, mitochondrial dysfunction, tau‐hyperphosphorylation and overactivation of its phosphatases, impaired developmental and adult neurogenesis, histological abnormalities in brains including ventricle enlargements and minor neurodegenerations in those mice. These observations may contribute to the identification of responsible genes and understanding of molecular pathology of Down syndrome.