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

MDBRPitt Hopkins
Written By Million Dollar Bike Ride

Awardee: Simone Mesman

Institution: Swammerdam Institute of Life Sciences, University of Amsterdam

Grant Amount: $78,530

Funding Period: February 1, 2022 - January 31, 2023

Summary:

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 inflence 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.

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