$125,000 awarded to Dr. Christine Vande Velde, Centre de recherche du CHUM at Université de Montreal, in collaboration with Dr. Marlene Oeffinger, Institut de recherches cliniques de Montréal (IRCM).
An important hallmark in understanding ALS was the discovery of dysfunction in a protein called TDP-43. TDP-43 is normally found in the nucleus, the central part of the cell. Problems with its transportation and function, however, are often seen in the motor neurons of people living with ALS, with TDP-43 being misplaced to an area outside the cell nucleus called the cytoplasm.
Dr. Vande Velde and her team have previously shown that a reduction in the amount of TDP-43 in the nucleus causes the code of another ALS gene called HNRNPA1 to be abnormally read, leading to the production of an alternative form of the protein called hnRNP A1B. Through a 2018 ALS Canada Project Grant, Dr. Vande Velde was able to explore some basic functions of hnRNP A1B, but it’s full biological function, and relationship to ALS remain unknown.
Researchers hypothesize that the disturbance in the type of hnRNP A1 produced in cells can contribute to neurodegeneration. In this study, they seek to understand more about the normal function of hnRNP A1B in several cellular processes, and how this can be linked to ALS disease progression.
Ultimately, the results from this study will not only provide mechanistic insights into the ALS-linked hnRNP A1B protein variant but also lay groundwork for the investigation of other protein variants which will be valuable for therapeutic and biomarker development in ALS.