Emerging research from the Clotilde Lagier-Tourenne Lab, in collaboration with Franck Martin’s Lab at the University of Strasbourg, is shedding new light on how genetic mutations in the C9ORF72 gene cause ALS and frontotemporal dementia (FTD). Xin Jiang, PhD, was the lead investigator on the study just published in the journal Science this month.
The study’s central findings involved exploration of the long-debated question: Which causes nerve damage in C9ORF72-associated ALS and FTD – dipeptide repeat proteins (DPR) or repeat RNAs? Is protein toxicity causing damage, or RNA toxicity? In this experiment, Dr. Jiang used a gene-editing technology called CRISPR to make a tiny change in the genetic code. This disabled the “start button” that tells the cell to build the toxic proteins…