Skip to content
Page last updated: 20th March 2014


Research led by Thomas Gillingwater (University of Edinburgh) has identified an important and potentially treatable consequence of reduced levels of the survival motor neuron (SMN) protein.

SMA is caused by mutations in the SMN1 gene, which results in the low levels of SMN protein seen in SMA patients; however, scientists have been unable to pinpoint the exact downstream events that ultimately lead to the loss of lower motor neurons observed in the disease.

Using a number of different animal models, this latest study coming from the Gillingwater Laboratory highlights an important cellular process as being impaired in SMA-affected animals.

Different cells and tissues require very precise subsets of molecules (including proteins) at distinct stages in order to carry out their specific functions. Once produced, these molecules must be constantly recycled and degraded to ensure that unwanted substances do not accumulate and that cells can function at their best.

A protein vital for this “housekeeping” process of molecule degradation was consistently reduced in SMA models. This resulted in a build up of a second molecule called beta-catenin, which was determined to be at least partly responsible for some of the neuromuscular symptoms reported in the disease models.

The researchers then went on to show that a plant-derived chemical called quercetin, which targets and reduces beta-catenin levels, was able to improve nervous system-specific defects in all of the animal models tested.

Unfortunately, quercetin did not halt disease progression in all of the inspected tissues, which was likely due to a lack of beta-catenin build up outside of the nervous system.

Nevertheless, this work identifies an important regulator of pathology in SMA, and highlights quercetin as having potential to treat the neuromuscular symptoms in SMA patients.

Further Information

Abstract from The Scientific Publications >