Matthew Keuss, PhD, UCL Queen Square Institute of Neurology, University College London, London, discusses the potential value of studying cryptic exons to shed light on the pathophysiological mechanisms of TDP-43 loss in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Cryptic exons are formed as a consequence of TDP-43 aggregation, as its neuronal loss leads to mis-splicing events and the improper inclusion of intronic sequences. Dr Keuss notes that these sequences could be used as readouts in high-throughput assays, their presence reflective of loss of function of TDP-43. Identifying key upstream events that promote pathological TDP-43 phase transition and aggregation is an important next step for novel target discovery. This interview took place at the Alzheimer’s Research UK (ARUK) Conference 2023 in Aberdeen, UK.
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