In Trieste the Molecular Pathology Group (Buratti) investigates aberrant pre-mRNA processing defects that lead to neurodegeneration. In particular, it studies the biological properties of TDP43, a nuclear factor involved in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD).
In 2020, several goals were achieved with regard to ALS and FTLD pathologies. The Molecular Pathology group has participated in a joint research project with a Rotterdam clinical research group to identify for the first time the presence of TDP-43 somatic mutations in the brains of patients affected by a particular form of dementia called Semantic Dementia. This work has been published in a leading research journal in neurodegenerative studies (Brain. 2020 143(12):3827-3841)). Furthermore, an EU Joint Programme –Neurodegenerative Disease international research project on Imaging heterogeneous TDP-43 neuropathologies was funded by the European Union. In recognition of our expertise in this subject area, in 2020 the Group was tasked to write a key chapter on TDP-43 and FUS pathological mechanisms in the first Springer book that targets dementia in the 21st Century (Adv Exp Med Biol. 2021;1281:243-267).