Brain lipid analysis in mice with Rett syndrome.
Brain lipid analysis in mice with Rett syndrome.
复制标题
雷特综合征小鼠的脑脂质分析。
DOI：
10.1007/s11064-008-9874-7
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发表时间：
2009
影响因子：
4.4
通讯作者：
Denny,ChristineA
中科院分区：
文献类型：
--
作者：
Seyfried,ThomasN;Heinecke,KarieA;Mantis,JohnG;Denny,ChristineA
Rett 综合征 (RS) 是一种 X 连锁神经发育障碍，主要涉及甲基 CpG 结合蛋白 2 (MECP2) 基因的突变。先前在RS患者的大脑和小脑中发现神经节苷脂异常。我们评估了携带 Mecp2tm1.1Birdknockout 突变或 Mecp2308/ydeletion 突变的雄性小鼠的大脑/脑干、海马和小脑中的总脂质分布。 Mecp2tm1.1鸟鼠的大脑/脑干中神经元富集的神经节苷脂GD1a的浓度显着低于年龄匹配的对照，但在Mecp2308/y小鼠中没有降低。在具有任一类型 Mecp2 突变的小鼠中，没有检测到脑脂质含量的其他差异，包括富含髓磷脂的脑苷脂。这些发现表明，先前在RS突变小鼠中报道的不良运动表现与主要的脑脂质异常无关，并且在RS患者中观察到的大多数先前观察到的脑脂质异常在Mecp2tm1.1Bird或Mecp2308/yRS小鼠中没有观察到。
Rett syndrome (RS) is an X-linked neurodevelopmental disorder mostly involving mutations in the gene for methyl-CpG-binding protein 2 (MECP2). Ganglioside abnormalities were previously found in cerebrum and cerebellum in RS patients. We evaluated total lipid distribution in cerebrum/brainstem, hippocampus, and cerebellum in male mice carrying either theMecp2tm1.1Birdknockout mutation or theMecp2308/ydeletion mutation. The concentration of the neuronal enriched ganglioside GD1a was significantly lower in the cerebrum/brainstem ofMecp2tm1.1Birdmice than in that of age matched controls, but was not reduced in theMecp2308/ymice. No other differences in brain lipid content, including myelin-enriched cerebrosides, were detected in mice with either type ofMecp2mutation. These findings indicate that the poor motor performance previously reported in the RS mutant mice is not associated with major brain lipid abnormalities and that most previous brain lipid abnormalities observed in RS patients were not observed in theMecp2tm1.1Birdor theMecp2308/yRS mice.