The role of BMP signalling in diseases of the motor unit


  • Dr Carlo Rinaldi

    University of Oxford

Project summary

Spinal and bulbar muscular atrophy (SBMA) is a genetically transmitted neuromuscular disease characterised by muscle weakness and atrophy secondary to dysfunction and death of motor neurons. Recent evidence about SBMA and other neuromuscular diseases has shown that skeletal muscle also plays a critical role in the disease and strongly influences motor neuron survival. These observations hold great potential for therapeutic pathways, particularly because muscle is much more accessible than motor neurons for pharmacological intervention.

The focus of my research is to understand the mechanisms causing the muscle atrophy in SBMA and how muscle signals back to motor neurons to affect their function. In this study I will investigate the role of the bone morphogenic protein (BMP) pathway in SBMA. The reasons why I chose to study this pathway are because the BMP pathway has been recently found to be the most important regulator of muscle mass and BMPs are known to act as muscle-secreted retrograde signals to motor neurons. Preliminary data have shown that this pathway is severely dysregulated in SBMA.

This work has the potential to pave the way to develop a new therapeutic strategy for SBMA and other neuromuscular diseases.