This study investigates the role of epigenetics in amyotrophic lateral sclerosis (ALS). Therefore, ALS patient-derived induced pluripotent stem cells (iPSCs) and healthy control-derived iPSCs were generated and characterized. Neural progenitor cells from healthy control cell lines and ALS cell lines, carrying a mutation in the fused in sarcoma (FUS) gene, were differentiated into motor neurons. These motor neurons showed typical ALS pathology with cytoplasmic FUS aggregates. Expression and promoter methylation of the FUS gene and expression of DNA methyltransferases were analyzed and compared to healthy control cell lines.
The described approach can be used to investigate epigenetic modification as novel therapeutic targets.
Methylation and expression of mutant FUS in motor neurons differentiated from induced pluripotent stem cells from ALS patients
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