New insights into how motor neurons live and die in motor neuron disease

October 2017: The Gillingwater Lab have published new studies that provide insights into the molecules and chemical pathways involved in neuron degeneration.

A new study from the Gillingwater lab, working in collaboration with colleagues from the University of Trento in Italy, has shown that a key protein involved in the childhood form of motor neuron disease - known as Spinal Muscular Atrophy (SMA) – plays an important role in regulating the generation of new proteins in neurons (via a process known as translation). 

The study revealed that the SMN protein regulates protein translation by influencing one major element of the machinery responsible for converting RNA into protein in cells, known as ribosomes. Experiments in a mouse model of SMA demonstrated that defects in protein translation and ribosomes are an important, but reversible, factor that can contribute to the breakdown and loss of motor neurons in motor neuron disease.


Read the scientific article: Cellular and Molecular Anatomy of the Human Neuromuscular Junction. Jones et al., Cell Reports 21: 2348–2356 (2017).

Professor Gillingwaters' research profile

University of Trento