Motor neurone disease gene discovery

Ammar Al-ChalabiResearchers at King’s College Hospital NHS Foundation Trust have discovered that younger people who develop motor neuron disease (MND) are more likely to have developed the condition due to a faulty gene.

MND is a condition which affects the brain and nervous system. Cells, called motor neurons, stop working, causing weakness in patients which gets worse over time.

Sometimes this condition is caused by a gene mutation, however, more commonly there is no gene mutation and the cause of the condition is unknown. Patients usually develop MND during middle or older age, although some people can develop it at a much younger age.

Research, published in the Journal of Neurology, Neurosurgery & Psychiatry and led by Professor Ammar Al-Chalabi (pictured) and Dr Puja Mehta, has shown that patients who develop MND younger are more likely to have a genetic basis for the condition.

Professor Al-Chalabi, who leads the King’s Motor Neuron Disease Care and Research Centre, said:

Around 5% of patients have a family history of MND, and usually this means they have a genetic mutation. People with a family history are on average likely to develop the condition 5-10 years younger than those without a family history but we were never very sure whether it was because people who have MND in the family are more likely to go to their doctor for a diagnosis sooner or whether it was because the disease developed sooner.

The researchers took blood samples from around 1,000 UK MND patients and analysed their genetic make-up – looking for the genetic mutations which can lead to the condition. A mutation in any one of 25 different genes can lead to MND.

Professor Al-Chalabi, who is also Professor of Complex Genetics at King’s College London, said the findings are important for a number of reasons:

If patients are younger, doctors can suggest that they have a genetic test. At the moment only patients with a family history of MND are encouraged to have a genetic test, but some patients without a family history may also have a gene mutation, and our research suggests they will be on average younger. Some members of their family might also have this mutation and not know about it.
In the future there is the potential for gene therapy trials for people with an MND gene mutation. It also helps us to have a better understanding of this condition. At the moment there is no cure and 80% of patients don’t live beyond five years from their first symptoms.

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