The researchers identified a variation in the CCNF gene in some members of an Australian family with MND and/or FTD. When they extended the study globally, they found additional variations of the CCNF gene in other families as well as in ‘sporadic’ cases of MND and/or FTD, which are those without a family history of the diseases. This latest finding published in the prestigious journal Nature Communications suggests a common mechanism for the development of MND and FTD, and adds to a growing list of genes implicated in MND. About 10% of MND occurs in families and symptoms are indistinguishable from sporadic cases. Up to 15% of MND patients are also diagnosed with FTD.

Associate Professor Ian Blair said the CCNF gene makes a protein called cyclin F that helps nerve cells remove abnormal or excess proteins.“Our laboratory experiments found that aberrant forms of the CCNF gene in nerve cells disrupted breakdown of proteins and caused nerve cell death. Although less than 3.3% of patients who have MND or FTD have this abnormal gene, it points to a common pathway of nerve death for many patients,” Associate Professor Blair said.

Dr Kelly Williams said further studies were planned to understand the different CCNF gene variants they had found in MND, to help identify targets for future treatments. "The large variation in the rate of disease progression among patients tells us that the disease is modifiable so perhaps we can modify the disease too. Different gene variants may cause MND or FTD and also be responsible for the rate of progression. One of our primary goals is to understand these genetic differences to give us the tools to slow or even arrest progression," Dr Williams said.

You can read the article here Nature Communications Article.

The study was supported internationally by the Motor Neurone Disease Research Institute of Australia, National Health and Medical Research Council of Australia, The Snow Foundation, European Community’s Seventh Framework programme, the Medical Research Council, Motor Neurone Disease Association (UK), Heaton-Ellis Trust, NIH/NINDS, ALS Therapy Alliance, the ALS Association, the Mangurian Foundation, CurePSP, Project ALS, P2ALS, Angel Fund, Pierre L. de Bourgknecht ALS Research Foundation, Al-Athel ALS Research Foundation, CIHR, MDA, ARC, Fondo de Investigación Sanitaria of Spain, FUNDELA, Mireia Barneda project ‘No llores, no te rindas’, Midlands Neuroscience Teaching and Research Fund, and AriSLA.


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