Metabolic dysfunction in motor neurone disease (MND): insights gained from studies in the lab and the clinic
- Australian Institute for Bioengineering and Nanotechnology, University of Queensland.
- Queensland Brain Institute, University of Queensland.
- UQ Centre for Clinical Research, University of Queensland.
Characterised by the irreversible death of upper and lower motor neurones, MND is a disease for which there is no effective treatment, and no cure. In recent years, there have been an increasing number of reports that describe altered metabolic regulation in MND patients. While it is proposed that changes in energy homeostasis is a modifier of disease outcome, the clinical impact of metabolic changes on disease progression and survival has remained mostly undefined. In this talk, I will present data from mouse studies where we seek to characterise the impact of metabolic changes on disease course, while also interrogating the origin of metabolic dysregulation. I will then present data from our prospective, multi-centre study that highlights, for the first time, the negative prognostic impact of altered energy expenditure in people living with MND. Finally, I will touch on some of our most recent work, in which we are investigating the relationship between whole body energy expenditure and cellular bioenergetics using MND patient derived cells.