UC San Diego

Rett syndrome (RTT), a rare neurodevelopmental disease found in 1:15,000 of female births, is an autism spectrum disorder involving mutations of the MeCP2 gene on the X- chromosome in human. In recent years, researchers have investigated and found evidence of the correlation between abnormal distribution of brain-derived neurotrophic factor (BDNF) and the pathology of RTT. However, few have explored the mechanism behind the regional shortage of BDNF in the brain. Here, I demonstrate that MeCP2- deficiency in MeCP2B cortical neurons, a mice model of RTT, is associated with impaired axonal transport of BDNF. In addition, I also established evidence suggesting that lithium treatment of neurons enhances axonal transport of BDNF in a p-Tau-dependent manner. Together, these findings provide a step forward in understanding the neurological background of the disease, and suggest a hypothetical model of the mechanism behind MeCP2-deficiency and neuronal BDNF imbalance