Understanding Rett Syndrome Pathologies

Dr Jeffrey Neul and his team at Baylor Medical College have been studying the root causes of pathologies associated with Rett Syndrome.

This disease is a neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 (MECP2), a transcriptional regulator. In addition to cognitive, communication, and motor problems, affected individuals have abnormalities in autonomic function and respiratory control. Sufferers often die young due to these abnormalities.

They found that MeCP2 is necessary within the brainstem and spinal cord for normal lifespan, normal control of heart rate, and respiratory response to hypoxia. Here's the exciting news: restoration of MeCP2 in a subset of the cells in this same region is sufficient to rescue abnormal heart rate and abnormal respiratory response to hypoxia. Furthermore, restoring MeCP2 function in neural centers critical for autonomic and respiratory function alleviates the lethality associated with loss of MeCP2: Christopher S. Ward, E. Melissa Arvidel, Teng-Wei Huang, Jong Yoo, Jeffrey L. Noebels, and Jeffrey L. Neul. MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan. The Journal of Neuroscience, 13 July 2011, 31(28): 10359-10370; doi: 10.1523/​JNEUROSCI.0057-11.2011

I will be keeping my finger of the pulse of Dr. Neul and team's research. It could be one of the keys that unlocks the door to creating theapies for Rhett Syndrome. This would be good news for sufferers and their loved ones. There is hope.

We would also like to thank the authors for referencing use of our goat polyclonal Islet-1 antibody.