Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder

Abstract

A characteristic feature of Rett syndrome (RTT) is abnormal breathing accompanied by several other neurological and cognitive disorders. Since RTT rodent models became available, studies have begun shedding insight into the breathing abnormalities at behavioral, cellular and molecular levels. Defects are found in several groups of brainstem neurons involved in respiratory control, and potential neural mechanisms have been suggested. The findings in animal models are helpful in therapeutic strategies for people with RTT with respect to lowering sudden and unexpected death, preventing secondary developmental consequences, and improving the quality of lives.

Keywords: Animal models; Autonomic function; Brainstem; Breathing; CO(2) chemosensitivity; Mecp2; Rett syndrome.