Institute of Neuroscience, State Kay Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, China.
Curr Opin Neurobiol. 2018 Feb;48:30-36. doi: 10.1016/j.conb.2017.09.004. Epub 2017 Sep 27.
MECP2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorders (ASD). Extensive works during the past decade yield ample insights into the molecular and cellular functions of MeCP2 in neural development. Furthermore, genetic manipulations in Mecp2 mouse models strongly suggested that deficiency in synaptic plasticity and various behaviors of Mecp2 null or transgenic mice could be rescued in adulthood. Further studies elucidating neural circuits responsible for symptoms in MECP2-associated disorders in rodent and non-human primate models will shed light on the development of potential therapeutic interventions.
MECP2 是神经发育的关键基因，其突变或重复会导致严重的神经发育障碍，如雷特综合征（RTT）和自闭症谱系障碍（ASD）。在过去的十年中，大量的研究工作深入了解了 MeCP2 在神经发育中的分子和细胞功能。此外，Mecp2 小鼠模型的遗传操作强烈表明，突触可塑性的缺乏以及 Mecp2 缺失或转基因小鼠的各种行为可以在成年期得到挽救。进一步研究阐明了在啮齿动物和非人类灵长类动物模型中与 MECP2 相关疾病的症状相关的神经回路，将为潜在治疗干预措施的发展提供线索。
