New risk factors for motor neurone disease identified

20 Sep 2017

QBI researchers are part of an international research team who has advanced our understanding of the genetic factors contributing to the risk of developing motor neurone disease (MND).  

The collaborative study was led by Professor Naomi Wray, from UQ’s Queensland Brain Institute (QBI) and the Institute for Molecular Bioscience (IMB).

The team focused on the most common form of MND, known as sporadic MND.

“MND is a progressive, terminal disease, with people diagnosed living an average of two-and-a-half years after onset, and two people diagnosed each day in Australia,” Professor Wray said.

“Most MND research focuses on the strongly familial form of MND, but more than 90 per cent of people with the disease have no family history of MND and their onset comes out of the blue.

“We have identified a location on the genome that is likely associated with non-inherited MND.

“Identifying new risk genes helps us build a more complete picture of the underlying mechanisms and pathways for the disease.

“Each new discovery thus improves our understanding of the genetic causes of MND and provides us with new avenues for research into potential treatments for this rapidly progressing degenerative disease.”

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

Key collaborators on the study included Professor Matthew Brown from Institute of Health and Biomedical Innovation, Queensland University of Technology, and Professor Dongsheng Fan of Peking University Third Hospital, Beijing. 

The collaboration allowed the study to include data from thousands of individuals of both European and Chinese ancestry, in contrast to most previous MND studies, which have only used European data.

“Professor Fan’s clinic in Beijing may see more patients each year than all of the major clinics in Australia combined, making them an invaluable source of data to progress research into sporadic MND,” Professor Brown said.

“Genes associated with MND are likely to be ancient and shared across ethnicities, and using cross-ethnic genetic studies can aid in pinpointing the locations on the genome that influence disease, and identify genes not easily found in other ethnic groups.”

Patients from the neurology clinics of the Royal Brisbane and Women’s Hospital and the Macquarie University Multidisciplinary Motor Neurone Disease Clinic also contributed to the study.

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

The study was published in Nature Communications.