In vitro disease modeling and pathophysiological characterization of fatty acid hydroxylase-associated neurodegeneration

10.18453/rosdok_id00005108 Efendic, Fatima Fatima Efendic http://d-nb.info/gnd/1389432386 https://orcid.org/0000-0002-8462-0690 In vitro disease modeling and pathophysiological characterization of fatty acid hydroxylase-associated neurodegeneration Universität Rostock 2024 610 Medical sciences Medicine 2024 en https://purl.uni-rostock.de/rosdok/id00005108 urn:nbn:de:gbv:28-rosdok_id00005108-0 Demyelination and neurodegeneration are key features of FAHN, a rare disorder caused by FA2H gene mutations. These mutations reduce enzymatic activity, leading to myelin instability, demyelination, and axonal degradation. In this study, we derived neurons and oligodendrocytes from FAHN patient hiPSCs and cocultured them to examine myelination in vitro. FA2H-deficient cells showed impaired myelination, with lower myelin protein levels and altered axonal structures, including shorter internodes and irregular Ranvier nodes.