Characterizing Cognitive Defects of Myotonic Dystrophy Type 1 in a Dish: Insight From Induced Neurons

dc.contributor.advisorRaaijmakers, Renée
dc.contributor.advisorAusems, Rosanne
dc.contributor.advisorHommersom, Marina
dc.contributor.advisorWansink, Derick
dc.contributor.advisorBokhoven, van, Hans
dc.contributor.authorRahm, Lisa
dc.description.abstractMyotonic dystrophy type 1 (DM1) is an inherited autosomal dominant multisystemic disorder including symptoms in the central nervous system. Symptoms include cognitive and memory deficits, which seem to be caused by global synaptic dysfunction. In order to recapitulate the brain phenotype, we created neurons from induced pluripotent stem cells (iPSC) from DM1 patients, which was done by an imposed expression of the transcription factor neurogenin-2. From there, we performed immunocytochemistry and electrophysiological recordings of the neuronal activity. Reverse transcriptase quantitative polymerase chain reaction (RT-qPCR) experiments were performed to study gene expression of DM1 related genes. iPSC express less DM1 specific genes compared to adult myoblasts. We, furthermore, demonstrated that it is possible to differentiate iPSCs from DM1 patients into iNeurons that show DM1 disease markers, and we made a step toward unravelling the DM1 neuropathophysiology. KEYWORDS Myotonic Dystrophy Type
dc.thesis.facultyFaculteit der Sociale Wetenschappen
dc.thesis.specialisationspecialisations::Faculteit der Sociale Wetenschappen::Researchmaster Cognitive Neuroscience::Researchmaster Cognitive Neuroscience
dc.thesis.studyprogrammestudyprogrammes::Faculteit der Sociale Wetenschappen::Researchmaster Cognitive Neuroscience
dc.titleCharacterizing Cognitive Defects of Myotonic Dystrophy Type 1 in a Dish: Insight From Induced Neurons
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