An international study led by Dr Kelly Williams and Associate Professor Ian Blair from the Department of Biomedical Sciences in the Faculty of Medicine and Health Sciences has linked the cause of two seemingly unrelated diseases: motor neurone disease (MND) and frontotemporal dementia.

The recently-released research was published in Nature Communications, and featured on Channel 10 news and Channel 9 news nationally.

Dr Williams and Associate Professor Blair identified variations in a gene called CCNF in a discovery that has significant implications for further studies into the cause of both conditions as well as research into patient treatments.

The gene variations were initially found in some patients with the inherited form of the diseases, but were also subsequently found in some with the ‘sporadic’ forms, which are those without a family history of these diseases.

While there was an earlier discovery of another gene implicated in causing these diseases, Macquarie’s researchers were able to extend the study by identifying a common pathway by which CCNF mutations seem to cause both diseases.

“A hallmark feature of most MND and frontotemporal dementia patients is the presence of abnormal proteins in the dying nerves. A functioning CCNF gene assists in ridding neurones, or nerves, of abnormal or excess proteins. Our research found that the mutations in the gene appear to disrupt this process causing nerve death,” said Associate Professor Blair.

Gene variations in CCNF were found in patients from across the world including Australia, Canada, Italy, Spain, Japan, the United States and United Kingdom, with implications for global populations and diagnostics around the world.

“While a relatively small number of patients who have MND or frontotemporal dementia have this abnormal gene, this research points to a pathway of nerve death that may be common among many, if not most patients,” said Associate Professor Blair.

This research is an important step that represents another ‘smoking gun’ to help develop and test therapies and add to diagnostic regimes for these diseases and to the bank of knowledge about their biology.

“We can use this research to replicate the disease in a lab environment to explore the occurrence in both ‘inherited’ and sporadic forms, which will assist us in identifying potential treatments to slow disease progression, and further down the line, find cures for both,’ said Dr Williams.