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Novel model of amyotrophic lateral sclerosis (ALS)

15 August 2013

FUS aggregates in cultured cells

FUS aggregates in cultured cells

The most common subtype of Motor Neuron Disease is Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease. Researchers at Cardiff University School of Biosciences, working to understand the molecular and cellular mechanisms responsible for the development of pathological changes in the nervous system of ALS patients, have developed a new model of this disease.

Aggregates of a protein called FUS are known to occur in ALS cases. Dr N Ninkina and Prof V Buchman have established a new model, which recapitulates the neurodegeneration and motor pathology typical for ALS following the expression of a highly aggregate-prone form of FUS protein.  Their recently published work reveals the importance of the link between two molecular events which are compromised in neurons affected by the neurodegenerative process, whilst also demonstrating that FUS aggregation within neurons of transgenic mice is sufficient to cause an ALS pattern of pathology with many key features of human ALS.  Critically, the disease progression occurs within an appropriate time frame, compressed in line with the shorter mouse lifespan.

Such models of human disease are vital for understanding the chain of events that lead to the development of diseases, and are central to facilitate the design of novel strategies for therapeutic intervention in ALS and related neurodegenerative disorders, allowing the testing of novel therapeutic approaches through translational studies which can see benefits to patients of the disease.

Dr Ninkina explains “Our model is quite unique because it reproduces many important features of human ALS with high reproducibility and within a convenient timeframe. We believe that this model will be used by researchers in academia and pharmacological industry; in fact we already have inquiries from other laboratories that would like to collaborate with us and/or use our model in their studies.”

This study was carried out in collaboration with researchers from three Russian research organisations (Institute of Physiologically Active Compounds Russian Academy of Sciences, Institute of Gene Biology Russian Academy of Sciences and Pirogov Russian National Research Medical University), whilst valuable tools were received from colleagues in the University of California at San Diego. The work was funded in part by the Wellcome Trust and by several Russian Research Grants. Recently the group have been awarded a Project Grant by the Motor Neurone Disease Association (to start in April 2014) to continue and extend their studies of FUS-triggered ALS.