Scientists heading to Northern Ireland to investigate genetic mutation

Professor Marta Korbonits and Brendan Holland

Together with a team from Queen’s University Belfast, they are appealing for adults from East Tyrone and South Derry to have their DNA tested for the altered gene, which is thought to be particularly prevalent in this region of Northern Ireland.

While most people who carry the altered gene do not experience any health problems, it can lead to acromegaly – a condition in which a benign enlargement of the pituitary gland causes excess growth of muscles, cartilage and bones. This excess growth can lead to other complications, including loss of peripheral (side) vision and hormone disturbances.

Researchers want to identify carriers so that they, and their families, can access screening and treatment if necessary, to help prevent potential health problems in the future.

The mutation was identified in 2011 on the AIP gene in patients from the region living with familial acromegaly.

Marta Korbonits, Professor of Endocrinology at Barts and The London School of Medicine and Dentistry, part of Queen Mary is leading the work. Professor Korbonits said: “Since we discovered the mutation, a number of patients from Northern Ireland with acromegaly have been screened for it. However, we know that over two-thirds of those who carry the mutation do not develop the condition and therefore will have no idea they’ve got it. This is why it is important to look at the general population, especially in the geographical area from where many of the patients are originating from.

“Testing in the general public will tell us more about how widespread the condition has become. But further than that, it will enable us to help those carrying the mutation by providing better advice and medical follow-up to prevent disease in their family.”

The gene at the heart of the study is the one which caused 18th century patient Charles Byrne, born near Cookstown and known as the ‘Irish giant’, to grow to over seven and a half feet tall. Sophisticated genetic calculations identified that Charles Byrne and the living patients who were found to carry the gene shared a common ancestor, and that the mutation is about 1,500 years old.

Professor Patrick Morrison, Honorary Professor of Human Genetics at Queen’s University Belfast said: “People with the gene may not necessarily be tall but they may have other health conditions which could be linked to this altered gene. Anyone who is found to carry the gene will be offered confirmation of the result, follow-up advice and, if necessary, treatment to help prevent future health complications which may result from the condition. The screening involves giving a saliva sample by spitting into a tube. It is free, takes just 10 minutes and there is no need to book.”

Tyrone businessman, Brendan Holland from Killeeshil was one of the patients in Professor Korbonits original study who was found to carry the AIP mutation. He has been supporting the team with this project to screen the general public.

Mr Holland said: “I wanted to, in some way, recognise the wonderful work Marta and her team have done and continue to do. If this research proves as successful as we hope, people can deal better with such a serious illness.”

Participants will receive information about their test results. Those individuals thought to carry the genetic abnormality will be referred to Professor Morrison at the Genetic Clinic in Belfast City Hospital for further advice and confirmation of the test result. Further family screening can then be arranged.

Screening will take place on 8th and 9th February (8am-8pm) in Tesco carpark, Cookstown, and on 1st and 2nd March (8am-8pm) in Tesco carpark, Dungannon.

For more details on the study visit www.fipapatients.org/population