Rescuing oligodendrogenesis and myelination as possible treatment for Pitt-Hopkins patients

PI: Dr. Simone Mesman

Swammerdam Institute of Life Sciences, University of Amsterdam

Million Dollar Bike Ride Award

$78,530

2021

In the brain of Pitt-Hopkins patients myelination, fatty sheets surrounding axons of neurons, is affected. The correct construction of these myelin sheets is crucial for proper brain functioning and neuronal communication. Incorrect myelination generally results in affected brain functioning and could be an underlying cause for defects in brain functioning as detected in PTHS. We propose to study myelination under influence of PTHS-related Tcf4 mutations, by investigating myelination profiles in PTHS patients and by studying the effects of these mutations on oligodendrogenesis, the generation of oligodendrocytes the cell-type that produces myelin.