Rett 综合征的分子遗传学和治疗研究进展.

Rett syndrome (RTT) is a functionally disabling disorder resulting from severe dysfunction of the autonomic nervous system. Currently, the majority of scholars believe it is associated with mutations in the MECP2 gene on the X chromosome. Clinical manifestations in RTT patients primarily include seizures, respiratory dysfunction, loss of previously acquired hand skills, and language abilities etc. In the past, the diagnosis of RTT mainly relied on the specific clinical manifestations of patients, and research on RTT in the pharmaceutical industry almost exclusively focused on downstream targets of MECP2 and improved symptomatic function. With the continuous deepening of research on RTT and the advancement of medical technology, many new therapeutic strategies have emerged in recent years and significant breakthroughs have been made. Therefore, in this review, the molecular mechanism and therapeutic progress of RTT were collected and reviewed. [ABSTRACT FROM AUTHOR]