15 November 2011 Details of a second gene have been published which links problems with the rubbish recycling system of proteins in motor neurones to the degeneration of cells which is seen in motor neurone disease (MND).
Research led by Prof Teepu Siddique, eminent MND researcher from North Western University in Chicago USA, published in the November edition of the Archives of Neurology, reports that genetic mistakes (mutations) in a gene called SQSTM1 have been found in 2 to 3% of all cases of MND.
Prof Siddique and his team set out to identify whether mutations in the SQSTM1 gene are found in cases of MND. SQSTM1 was chosen as a focus for the research as the protein it produces, P62, had previously been associated with MND in a number of studies.
The research group has yet to verify whether these mutations are responsible for causing the disease alone or whether they act in combination with other factors to increase the risk of somebody developing the disease. Further laboratory research is also needed to confirm the way in which these mutations contribute to the degeneration and death of motor neurones. But the team’s results do further implicate that problems with the protein recycling system in motor neurones is faulty in MND.
Dr Brian Dickie, Director of Research Development at the MND Association, said: “This new discovery places protein recycling and disposal near the top of the list of common degenerative processes occurring in MND, no matter what the original cause of the disease.
“Similar problems appear to occur in other neurodegenerative conditions, such as Parkinson’s disease and Huntington’s disease which should encourage drug companies to pursue treatment strategies to improve protein processing and hopefully prevent neurons from dying.”
Prof Siddique has a long and distinguished career in MND research. He was responsible for identifying the SOD1 gene in 1993, the first MND-causing gene to be discovered. He is also responsible for the discovery published in August of the UBQLN2 gene.
The MND Association has invited Prof Siddique to speak at this year’s International Symposium on ALS/MND which will be held in Sydney, Australia from 30 November to 2 December 2011. In his presentation, he will be providing an overview of the findings from his labs which have featured heavily in MND research headlines in 2011.
The symposium, the largest medical and scientific conference on MND, is organised by the Association every year. It is regarded as the premier event in the MND research calendar, attracting over 800 delegates, representing the energy and dynamism of the global MND research community.
You can go behind the scenes of this research breakthrough to find out more by reading the latest from our research blog.
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For media enquiries please contact Louise Coxon Communications Manager
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