Rare mutations of this gene increase the risk of developing MND

21 November 2017

An international team has identified a gene associated with motor neurone disease in people of Chinese ancestry, a discovery that will improve our understanding of this terminal disorder in all populations.

Motor neurone disease (MND), or Amyotrophic lateral sclerosis (ALS) as it is also known, is a devastating disorder where sufferers gradually lose the ability to perform vital functions including swallow, move their muscles and, finally, breathe.

The collaborative study, involving Professor Naomi Wray from The University of Queensland’s Institute for Molecular Bioscience (IMB) and Queensland Brain Institute (QBI), found that the gene NEK1 contributes to MND in some Chinese people.

“MND affects people from around the world, causing 100,000 deaths globally each year,” Professor Wray said.

“But most research to date has focussed on people of European ancestry, despite the importance of trans-ethnic studies in understanding human genetics.”

Last year, a study on people of European ancestry identified NEK1 as being important in disease onset for some people.

“We have shown in this study that NEK1 also contributes to disease in some Chinese people with MND,” Professor Wray said.

“Verification of the importance of this gene in a different ancestry will help prioritise molecular investigations of the role this gene plays in MND.”

Key collaborators included Professor Matthew Brown from the Queensland University of Technology and Professor Dongsheng Fan of Peking University Third Hospital, Beijing. 

The research was made possible with the generous support of organisations and individuals, especially the Peter Goodenough bequest, the Motor Neurone Disease Research Institute of Australia, and the Ross Maclean Senior Research Fellowship.

Other supporting organisations include the Australian Research Council and the National Health and Medical Research Council.

The study was published in Genome Medicine.

More information: IMB Communications - 07 3346 2134; 0418 575 247; communications@imb.uq.edu.au


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