$125,000 awarded to Dr. Jean-Pierre Julien, Université Laval, in collaboration with Dr. Angela Genge, McGill University.
Neurofilament light (NfL) is an essential building block of nerve cells, and elevated levels of NfL in bodily fluids (such as blood or cerebrospinal fluid) can indicate damage or death of these cells. NfL is now recognized as one of the most important and useful biomarkers for ALS. Abnormal accumulations of an ALS-linked protein called TDP-43, which are present in approximately 97 per cent of ALS cases, can hinder the production of NfL within cells.
These findings, based on studies conducted in mouse models of ALS, suggest that reduced NfL levels could negatively affect the health of motor neurons. This discovery adds a new layer to our understanding of the intricate processes involved in ALS, highlighting the role of TDP-43 in regulating NfL production and the potential impact of this on motor neuron well-being.
With this award, Dr. Julien will explore the extent to which lower NfL levels associated with TDP-43 dysfunction contribute to ALS. Using a novel viral delivery system, researchers will boost NfL levels in mice with TDP-43 dysfunction. Researchers hope that restoring NfL synthesis will alleviate, in part, the symptoms and cellular defects associated with ALS. The outcomes of this study will advance our understanding of disease mechanisms associated with TDP-43 dysfunction and, if successful, may lay the foundation for future ALS treatment options.