Vitamin D Supplementation in a Model of Rett Syndrome to Improve Breathing Outcomes

Lara DeRuisseau (Le Moyne) PI and Jessica MacDonald (BIO) co-PI, CUSE Grant – Seed Grant, 7/1/21-6/30/23.

Rett syndrome (RTT) is a developmental disorder caused by mutations to the MECP2 gene. The Mecp2-mutant mouse is an important model to investigate RTT. Improvement of breathing deficits in this model are considered a primary goal in the development and application of new therapies. Since Vitamin D improves cortical neuron morphology through the NF-κB pathway, and previous work identified NF-κB signaling changes in the brainstem, it is highly plausible that brainstem and spinal cord neurons are also improved with Vitamin D supplementation, which would influence the pattern of breathing in Mecp2-mutant mice. This proposal focuses on the first key breathing experiment that is essential to provide proof-of-concept for this novel project by forming the collaboration between a cardiorespiratory physiology laboratory (L. DeRuisseau) and a developmental neurobiology laboratory (J. MacDonald).