Breakthrough may identify genes behind motor neuron disease

SCIENTISTS studying one of the most baffling disorders of the nervous system have made a breakthrough that could help identify the role some genes can play in increasing the risk of motor neuron disease (MND).

The breakthrough sheds new light on the form of the disease that develops in patients where there is no known family history of MND – known as ‘sporadic’ or non-familial MND – the most common form of the condition. A small percentage of cases – about 5% – are due to known genetic problems and run in families. Until now it was uncertain whether genes played a role in the remaining nine out of 10 cases.

However, the latest research, which involves a team of high-profile Irish scientists funded by the Health Research Board (HRB), has shown that two regions of the human genetic code increase MND risk.

The research, reported in the September online issue of the journal Nature Genetics, involved comparing the entire genetic code in 4,855 MND patients with 14,953 unaffected persons. The comparison allowed scientists to zone in on two ‘genetic hits’.

Dr Simon Cronin, senior geneticist and Research Fellow with the Irish MND research group, said the first new association is with a gene involved in how neurons talk to one another and to the muscles.

“This suggests we need to study that process more closely to understand how the disease develops,” Dr Cronin said. “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,” Dr Cronin added.

Prof Orla Hardiman, HRB clinician scientist, consultant neurologist at Beaumont Hospital and clinical professor of neurology at Trinity College Dublin, who leads the Irish MND research group, said they now had the strongest evidence to date that genes play an important role for sporadic MND. “We are confident 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.


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