Irish genes helping to find some answers for brain disorders

Ireland’s relative lack of immigration and pure gene pool has made its people a great test study for degenerative brain disorders.

So says consultant neurologist at Beaumont Hospital Professor Orla Haridman, who is also clinical professor of neurology at Trinity College Dublin.

The professor is concentrating on research on Motor Neurone Disease – an ailment that can affect one in every 400 people in Ireland. Theoretical physicist and world renowned scholar Professor Stephen Hawking suffers from the disease.

“The multi-disciplinary research team has been clinically investigating motor neurone disease, a neurodegenerative disease which causes a gradual degradation and death of motor neurones,” Hardiman told the Irish Times in an interview.

Hardiman’s work has not gone unnoticed, and she recently won the Sheila Essey Award for her research into MND. She says that Irish people are a very valuable research resource and the studies carried out but her team has unearthed some important findings.

“We discovered that mutations in the ANG [angiogenin] gene lead to motor neurone death.

“There has been very little immigration until recently, so genetically the population is relatively homogenous, with good access to healthcare, so it is possible to look at diseases at a detailed level,” continued Hardiman in the Times interview.

Over the 15 years she has been monitoring the disease, Hardiman has noticed patterns in the prevalence of the disease.

“Looking into European genetic and environmental susceptibility, we identified a number of genes in the Irish population, and were able to replicate these in the Scottish population. This was very reassuring as the genetic make up of the Irish and Scottish is very similar.”

It would seem that the European areas populated by the Celts indicate that that genetic pool is more predisposed to the disease.

“The further west in Ireland we go the more ‘pure’ the ancestral genetic population, and the higher the frequency of MND,” she said.

Data collected from Cuba indicates that a more mixed gene pool decreases the chance of getting degenerative brain disorders, and Professor Hardiman’s research could be instrumental not only in finding some for answers for MND, but also help in learning more about Parkinsons and Alzheimer’s.