Under Professor Paul Chapple’s leaership, the ARSACS research team has published in May 2017  a research paper  in the Human Molecular Genetics journal looking at the cytoskeleton in cells cuktured from ARSACS patients. “We have identified a cytoskeletal phenotype in skin cells from ARSACS patients. This is important as it should be possible use this cellular phenotype as a readout in assays to screen for drugs that could have potential therapeutic benefit for ARSACS” said Dr. Chapple.
The cytoskeleton is a dynamic network of filaments that pervades the cytoplasm of cells. It acts to regulate cellular shape and internal organisation, while providing the mechanical support that enables cells to divide and move. The researchers have discovered that one component of the cytoskeleton, known as intermediate filaments, has a dramatically altered organisation in skin cells from ARSACS patients. This inturn impacts on the internal organisation of these cells, as well as the machinery they use to deal with damaged and unwanted components. This research increases knowledge of what may go wrong at the cellular level in ARSACS.