Motor neurone disease breakthrough as new genes discovered

25 Jul 2016

Three new genes have been linked with motor neurone disease after Trinity College researchers joined an international team of genetic scientists on a major global investigation into the condition.

After looking at the genetic make-up of over 35,000 people – one-third of whom were sufferers of motor neurone disease – genes C21orf2, MOBP and SCFD1 are believed to be associated with the debilitating condition.

Motor neuron disease

The breakthrough comes after a team of 180 scientists from 17 countries banded together for one of the largest-scale macro studies on motor neurone disease ever recorded.

Included in the team was Dr Russell McLaughlin of Trinity College Dublin, an author of the study led by researchers from King’s College London in the UK and Utrecht University in the Netherlands.

Opening the door

Millions of genetic variations were profiled among those healthy and those not, with the trio of finds meaning future research into motor neurone disease could prove far more focused.

It has widely been assumed that genetic make-up in sufferers holds the key to understanding the disease but, as yet, it has proved hard to pin down exactly what it is scientists are looking for.

Through this discovery – a large-scale fishing expedition of sorts – that may have changed.

“There appears to be a substantial genetic component to motor neurone disease,” said McLaughlin after the paper he worked on was published in Nature Genetics.

“There is no cure to this disease, only therapies that might work on some people. There is a real need to develop therapies, but that’s difficult to do if you don’t understand the disease at genetic level.”

Further research needed

The rarity of the three genes discovered means that the next stage will see a similar macro study, but to a greater detail, with the hopes of confirming the role C21orf2, MOBP and SCFD1 play in the formation of motor neurone disease.

Research is already underway in Ireland and several other countries, which will expand the search beyond common genetic variations to include genes only seen in a small number of people.

“In the paper, we used a technology that takes a view of the human genome without going into detail,” said McLaughlin. “It looked at common genetic variations, using a marker for what’s inherited, what’s passed on.

“Now we need to look at the compete genome of these sufferers. To get the entire genetic code of those in our study.”

There are approximately 300 people living with MND at any one time in Ireland, with those affected typically aged between 50 and 70.

Suffering progressive paralysis, those diagnosed with motor neurone disease typically die within three to five years of the first symptoms emerging.

DNA sequence image via Shutterstock

Gordon Hunt was a journalist with Silicon Republic