Jessica Whitaker-Fornek

Oct 2, 2023 | biorxiv.org | Jessica Whitaker-Fornek |Paul Jenkins |Erica S. Levitt

AbstractRett Syndrome (RTT) is a severe neurodevelopmental disorder that mainly affects girls and women due to silencing mutations in the X-linked MECP2 gene. One of the most troubling symptoms of RTT is breathing irregularity, including apneas, breath-holds, and hyperventilation. Mice with silencing mutations in Mecp2 exhibit breathing abnormalities similar to human patients and serve as useful models for studying mechanisms underlying breathing problems in RTT.