Advances in molecular genetics and therapy of Rett syndrome
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,re-spiratory dysfunction,loss of previously acquired hand skills,and language abilities etc.In the past,the diagno-sis of RTT mainly relied on the specific clinical manifestations of patients,and research on RTT in the phar-maceutical 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,man-y 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 re-viewed.
Rett syndromeGene mutationGeneticsMolecular mechanismTherapyRe-view
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维普
