University of Connecticut researchers identify cause of Rett syndrome breathing issues

Researchers at the University of Connecticut have identified a mechanical cause for the severe breathing abnormalities associated with Rett syndrome. While the condition, caused by mutations in the MECP2 gene, has long been classified as a central nervous system disorder, new findings suggest that peripheral chemoreceptors—specifically those located around the carotid artery in the neck—play a critical role in the respiratory disruptions.

Patients with Rett syndrome often experience extreme cycles of disordered breathing, including periods of apnea (where breathing stops) followed by gasping and hyperventilation. By using mouse models lacking the MECP2 gene, investigators were able to isolate brain-driven respiration from peripheral oxygen sensing to uncover these mechanics.

In addition to identifying the cause, clinical trials are currently testing a medication used for Parkinson’s disease to see if it can reduce these distressing breath-holding episodes in Rett syndrome patients.