【佳學(xué)基因檢測】破譯 MECP2 相關(guān)疾病：被破壞的電路和修復(fù)的希望

基因檢測—實(shí)操性

數(shù)據(jù)分析博士醫(yī)師年度雙基練習(xí)《精神與神經(jīng)疾病治療效果與基因檢測結(jié)果的相關(guān)性》集體討化了《Curr Opin Neurobiol》在. 2018 Feb;48:30-36.發(fā)表了一篇題目為《破譯 MECP2 相關(guān)疾病：被破壞的電路和修復(fù)的希望》的精神系統(tǒng)致病基因鑒定后的正確治療方法臨床研究數(shù)據(jù)。該研究由Zilong Qiu等完成。通過一個(gè)基因檢測結(jié)果揭示疾病發(fā)生后的根源，以及根據(jù)發(fā)病根原進(jìn)行針對(duì)性治療的實(shí)際案體，給基因檢測指導(dǎo)治療提供了路線圖和方法論。

神經(jīng)疾病遺傳阻斷及正確治療臨床研究內(nèi)容關(guān)鍵詞：

神經(jīng)發(fā)育,RETT綜合征,瑞特綜合征,致病基因,干預(yù)方案,干預(yù)措施

精神科心理科疾病用藥指導(dǎo)基因檢測臨床應(yīng)用結(jié)果

MECP2 是神經(jīng)發(fā)育的關(guān)鍵基因，其突變或重復(fù)會(huì)導(dǎo)致嚴(yán)重的神經(jīng)發(fā)育障礙，例如 Rett 綜合征 (RTT) 和自閉癥譜系障礙 (ASD)。過去十年的大量工作對(duì) MeCP2 在神經(jīng)發(fā)育中的分子和細(xì)胞功能產(chǎn)生了豐富的見解。此外，Mecp2 小鼠模型中的基因操作強(qiáng)烈表明，突觸可塑性缺陷和 Mecp2 缺失或轉(zhuǎn)基因小鼠的各種行為可以在成年期得到拯救。進(jìn)一步研究闡明嚙齒動(dòng)物和非人類靈長類動(dòng)物模型中 MECP2 相關(guān)疾病癥狀的神經(jīng)回路，將有助于開發(fā)潛在的治療干預(yù)措施。

神經(jīng)及精神疾病及其并發(fā)征、合并征國際數(shù)據(jù)庫描述：

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.