HRB funded scientists uncover a genetic link for a form of motor neuron disease
7 September 2009
A team of Irish researchers part-funded by the Health Research Board are part of a international consortium which has shown that two regions of the human genetic code increase the risk for motor neuron disease. The discovery sheds new light on the poorly understood sporadic form of the disease.
Motor neuron disease (MND) is a devastating neurological illness which can strike at any time of life leading to progressive wasting of the limbs. The lifetime risk is about 1 in 400. Average survival is 3 to 5 years and there is no known cure. A small percentage of cases are due to known genetic problems and run in families. Until now, it was uncertain whether genes played a role in the remaining 9 out of 10 cases which appear as ‘sporadic’.
The new research, which is reported in the online issue of the journal Nature Genetics on 6 September, involved screening the DNA of many thousands of volunteers from across Europe and North America. The Irish researchers, from Trinity College Dublin and Beaumont Hospital, are part of an international collaboration which was co-ordinated by the University Medical Center in Utrecht, The Netherlands.
Comparing the entire genetic code in 4,855 MND patients with 14,953 unaffected persons, or ‘control group’ allowed scientists to zone in on two ‘genetic hits’. ‘The first new association is with the a gene involved in how neurons talk to one another and to the muscles,’ said Dr Simon Cronin, Senior Geneticist with the Irish MND research group. ‘This suggests we need to study that process more closely to understand how the disease develops’. The second gene was previously described in a specific form of dementia, and this may explain why some people with MND can develop cognitive decline.
‘We are very excited about these results,’ said Prof. Orla Hardiman, HRB Clinician Scientist and Consultant Neurologist, Clinical Professor of Neurology at TCD who leads the Irish MND research group. ‘This is the strongest evidence to date that genes play an important role for sporadic MND, the most common form of the condition. We are confident that our continued search will help us clarify the causes of MND. This will ultimately help us to develop new treatments for MND and related diseases’.
The Irish component of the work was funded by the US based charity Muscular Dystrophy Association and by the Health Research Board of Ireland.
