Trevor Forsyth, Professor, Lund University
Director, the LINXS Institute of Advanced Neutron and X-ray Science
Abstract: Transthyretin amyloidosis is an invariably fatal disease that arises from the misfolding of a protein called transthyretin (TTR) that normally transports the hormone thyroxine and vitamin A in the blood and cerebrospinal fluid. The misfolded protein aggregates, forming filamentous amyloid plaques that clog up and compromise key tissues and organs in the body, including the heart and nervous system. At a molecular level, it has much in common with other progressive conditions such as Alzheimer’s disease. Combined X-ray and neutron diffraction studies have been used in conjunction with mass spectrometry, molecular dynamics, and electron microscopy to probe the molecular mechanisms underlying TTR amyloidosis as well as candidate drugs for therapeutic use. A crucial aspect of this type of work is the linkup between the fundamental science based on in vitro results from laboratory-produced samples, ex vivo samples from diseased tissue, and in vivo studies from afflicted patients under clinical supervision. The gap between the fundamental and clinical sciences – historically a quite challenging one – is steadily narrowing and the large facilities such as MAX-IV and ESS and the integrative environment planned for the Science Village in Brunnshög is set to play a vital role.