Department of Neurobiology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Exp Biol Med (Maywood). 2011 Jan;236(1):3-19. doi: 10.1258/ebm.2010.010261.
Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA. The clinical hallmarks include a period of apparently normal early development followed by a plateau and then subsequent frank regression. Impaired visual and aural contact often lead to an initial diagnosis of autism. The characterization of experimental models based on the loss-of-function of the mouse Mecp2 gene revealed that subtle changes in the morphology and function of brain cells and synapses have profound consequences on network activities that underlie critical brain functions. Furthermore, these experimental models have been used for successful reversals of RTT-like symptoms by genetic, pharmacological and environmental manipulations, raising hope for novel therapeutic strategies to improve the quality of life of RTT individuals.
雷特综合征（RTT）是一种神经发育障碍，主要发生在女性中，发病率为每 10000 例出生 1 例，由 MECP2 基因的散发性突变引起，该基因编码甲基化CpG 结合蛋白 2，一种表观遗传转录因子，可与甲基化 DNA 结合。临床特征包括明显正常的早期发育期，随后是平台期，然后是明显的退行期。视觉和听觉接触受损常常导致自闭症的初步诊断。基于小鼠 Mecp2 基因功能丧失的实验模型的特征表明，脑细胞和突触形态和功能的细微变化对网络活动有深远影响，而网络活动是大脑关键功能的基础。此外，这些实验模型已被用于通过遗传、药理学和环境操作成功逆转 RTT 样症状，为改善 RTT 个体的生活质量的新治疗策略带来了希望。
