Characterizing Cognitive Defects of Myotonic Dystrophy Type 1 in a Dish: Insight From Induced Neurons
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2020-09-25
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en
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Abstract
Myotonic 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
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Faculteit der Sociale Wetenschappen