Abstract：
To date, Rett syndrome (RTT), a genetic disorder mainly caused by mutations in the X-linked MECP2 gene, is increasingly considered a broad-spectrum pathology, instead of just a neurodevelopmental disease, due to the multitude of peripheral co-morbidities and the compromised metabolic pathways, affecting the patients. The altered molecular processes include an impaired mitochondrial function, a perturbed redox homeostasis, a chronic subclinical inflammation and an improper cholesterol metabolism. The persistent subclinical inflammatory condition was first defined ten years ago, as a previously unrecognized feature of RTT, playing a role in the pathology progress and modulation of phenotypical severity. In light of this, the present work aims at reviewing the current knowledge on the chronic inflammatory status and the altered immune/inflammatory functions in RTT, as well as investigating the emerging mechanisms underlying this condition with a special focus on the latest findings about inflammasome system, autoimmunity responses and intestinal micro- and mycobiota. On these bases, although further research is needed, future therapeutic strategies able to re-establish an adequate immune/inflammatory response could represent potential approaches for RTT patients.
摘要：
迄今为止,Rett综合征(RTT),主要由X连锁MECP2基因突变引起的遗传性疾病，越来越被认为是一种广谱病理学，而不仅仅是神经发育疾病，由于大量的外周共病和受损的代谢途径，影响患者。改变的分子过程包括受损的线粒体功能，受干扰的氧化还原稳态，慢性亚临床炎症和不适当的胆固醇代谢。10年前首次定义了持续性亚临床炎症,作为以前无法识别的RTT功能，在病理进展和表型严重程度的调节中起作用。鉴于此,本工作旨在回顾目前有关RTT中慢性炎症状态和免疫/炎症功能改变的知识，以及调查这种疾病背后的新机制，特别关注关于炎症小体系统的最新发现，自身免疫反应和肠道微生物和真菌群。在这些基础上,虽然还需要进一步的研究,能够重新建立足够免疫/炎症反应的未来治疗策略可能是RTT患者的潜在方法.
