Irish geneticists have played a leading role in isolating three genes that shed light on the underlying causes of motor neurone disease.
More than 180 scientists from 17 countries, including Ireland, used DNA samples donated by over 12,000 patients with MND and a further 23,000 by healthy individuals.
The study, published in the journal Nature Genetics, pointed the scientists towards three previously unknown genes. It also provided the best indication yet of how exactly they should continue their search for the causes of MND.
“We are closer to understanding the condition at a fundamental level, which is a critical first step towards being able to develop a cure,” said Dr Russell McLaughlin from TCD, one of the study’s lead authors.
“But there is still a fairly long and winding path from understanding the biology to having an actual therapy.”
Nevertheless, it was the successful culmination of a 10-year scientific effort and will contribute towards the development of new and better drugs to treat the disease.
The Irish Motor Neurone Disease Association point out that one person is diagnosed with MND every four days in Ireland. There about 350 people with MND, and life expectancy for most people with MND is just two to five years.
MND is the name give to a group of related diseases affecting the motor neurones (nerve cells) in the brain and spinal cord.
Dr McLaughlin said some diseases, like schizophrenia, appeared to be caused by the added effects of thousands of genes commonly seen in the population, each of which could not cause the disease on its own.
“With MND, it seems that a similar mechanism may be at play, but the genes that add up to cause the disease are much rarer,” he said.
The apparent rarity of genes that cause MND means that scientists now have to conduct even larger and fine-grained studies.
Research is already underway in TCD and several other countries that will expand the search beyond common genetic variation to include genes only seen in a small number of people.
MND strikes people of all ages, and currently, there is no cure. Riluzole (trade names include Rilutek) is the first and, to date, only drug licensed for the treatment of MND. In studies, people with MND taking Rilutek were shown to have an increased life expectancy.
“As we continue researching over the next decade, all of the new information we get will incrementally add to our understanding of the underlying biology of the disease and help people develop drugs,” said Dr McLaughlin.
Famous people who have died of MND include RTÉ sports broadcaster, Colm Murray and Munster Rugby head of strength and conditioning, Paul Darbyshire.
Project MinE (www.projectmine.com/country/ireland) is a crowdfunded initiative that will examine the full DNA profile, including rare genetic variation in 1,000 Irish people to determine all of the genetic causes of MND. Because genetic research is costly, Prof Orla Hardiman, who leads the Irish MND research group, is hoping that the public will help fund the initiative.
More information and support is available at the IMNDA’s website at www.imnda.ie. It has three nurses looking after MND patients throughout Ireland who also provide telephone support at 1800 403403.
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