Mutant huntingtin disrupts global DNA methylation in human iPSC-derived cerebral organoids
Elad Dvir, Moria Maman, Xue Sun, Khalil Joron, Eitan Lerner, Oren Ram, Sagiv Shifman, Eran Meshorer · FENS Forum 2024
Huntington's disease (HD) is a genetic neurodegenerative disorder, caused by CAG repeat expansion (>39) coding for poly-glutamine (polyQ) tract in the Huntingtin (HTT) gene. Although HD is late onset, it was shown to have an early neurodevelopmental component. In addition, DNA methylation was shown in adults to be an important epigenetic mechanism involved in HD. Here we sought to explore early pre-symptomatic neurodevelopmental alterations in DNA methylation using cerebral organoids from juvenile forms of isogenic HD pluripotent cells. We find wide-spread DNA demethylation in the mutant ce
ePoster · Neuroscience