Liu Yi, Guo Ruisi, Jaenisch Rudolf
Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Adv Exp Med Biol. 2025;1477:243-263. doi: 10.1007/978-3-031-89525-8_9.
Rett Syndrome (RTT) is a severe neurological disorder caused by mutations in the MECP2 gene. This disorder primarily affects brain development, leading to profound cognitive and motor impairments. Conventionally, research on RTT has concentrated on the neurological impact of MECP2 mutations. However, other evidence suggests that the influence of RTT extends beyond neural boundaries, impacting a broad spectrum of other tissues and organ systems. This chapter provides an overview of identified abnormalities in respiratory, skeletal, cardiac, liver, endocrine, urinary, immune, and gastrointestinal systems in patients with RTT or related disease models. We further explore the potential pathways involved in the brain-body circuit and their impact on the development of RTT. These insights not only enhance our understanding of the multi-system involvement in RTT, but also reveal the necessity for a more comprehensive approach to investigating the systemic courses of neurological disorders.
雷特综合征（RTT）是一种由MECP2基因突变引起的严重神经疾病。这种疾病主要影响大脑发育，导致严重的认知和运动障碍。传统上，对RTT的研究集中在MECP2突变的神经影响上。然而，其他证据表明，RTT的影响超出了神经范围，对广泛的其他组织和器官系统产生影响。本章概述了RTT患者或相关疾病模型在呼吸、骨骼、心脏、肝脏、内分泌、泌尿、免疫和胃肠系统中已发现的异常情况。我们进一步探讨了脑-体回路中涉及的潜在途径及其对RTT发展的影响。这些见解不仅加深了我们对RTT多系统受累的理解，也揭示了采用更全面方法研究神经疾病全身病程的必要性。
