A new study demonstrates that a benign growth on the pituitary gland causing a growth disorder called acromegaly, which in some cases may lead to gigantism, are often inherited in Northern Ireland. A genetic test on DNA samples can identify the presence of the gene presenting the risk.
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An article on the population screening for AIP mutations in Northern Ireland was featured in the summer 2013 issue of "The Endocrinologist".Legends_and_Facts_Population_Screening_for_AIP_Mutations_in_Northern_Ireland.pdf [PDF 241KB]
Scientists from Queen Mary, University of London are heading to Northern Ireland to investigate a 1500-year-old genetic mutation which can lead to gigantism.
A team of ten doctors and scientists for Queen Mary and 5 doctors from Belfast are asking members of the public in East Tyrone and South Derry to come and have their DNA tested over two weekends in February and March.
The aim is to find out how many people in the region are carriers of the mutation – thought to be unique to this part of the country - and to identify people who are unaware they are carrying the mutation in order to help prevent disease in their family.
This mutation was identified in 2011 on the AIP gene in patients from the region living with familial acromegaly – an inherited form of the condition acromegaly in which a pituitary tumour causes tissues to grow abnormally. If the disease starts in childhood and is not recognised and treated in time, it can lead to gigantism.
By studying DNA from the teeth of 18th-century patient Charles Byrne, known as the 'Irish giant', the scientists discovered it was this same mutation which had caused him to grow to over seven and a half feet tall. Sophisticated genetic calculations identified that Charles Byrne and the living patients had shared a common ancestor and that the mutation is about 1,500 years old.
Marta Korbonits, Professor of Endocrinology at Queen Mary, who is leading the work 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."
Tyrone businessman, Brendan Holland was one of the patients in Professor Korbonits original study who was found to carry the AIP mutation. He has been supporting the team in their new venture to test 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 won't have to go through the trauma of such a serious illness as myself and others."
The DNA collection process involves the collection of a saliva sample by spitting into a tube. The whole visit should last no more than 10 minutes and no booking is required.
Participants will be able to receive information about their test results and individuals thought to carry the genetic abnormality will be referred to the Genetic Clinic in Belfast for further advice and confirmation of the test result. Further family screening can then be arranged.
Screening will take place on the 8-9th February 2013 in Dungannon and on the 1-2nd March in Cookstown. (most probably in a screening unit set up in TESCO carpark, but this needs to be confirmed).
Full details on taking part in the study and how to contact the team with any questions are here.
On the 23rd November 2011 Prof Korbonits gave a lecture at the Royal College of Surgeons in London. She addressed members of the public including many patients about "A Tall Story: unravelling the genetics behind Charles Byrne – 'the Irish Giant'". Mr Holland, a patient who has the same common ancestor as the 'the Irish Giant' and also suffers from the same disease, also gave a personal account of the disease.
A modern theatre play of the life of the Irish Giant and the surgeon John Hunter was staged by the Centre for the History of Medicine at the University of Warwick in May 2011. Please find photos and further information about the event on the new website here.
Hunterian Museum Lunchtime lectures Wednesday 23 November 2011, 1 pm A Tall Story: unravelling the genetics behind Charles Byrne – ‘the Irish Giant’ Professor Márta Korbonits, Barts and the London School of Medicine
While his skeleton standing at nearly eight feet is unique among the museum collections, Charles Byrne had two cousins who were also giants suggesting his condition might have a genetic link. This started a historical and scientific journey which led to identification of the gene abnormality Byrne had and to the history of this abnormality from ancient times until today. Author of this study Márta Korbonits discusses her work and will be joined by a relative of Charles who will provide his own perspective on this discovery.
A recent publication identified, that the famous 18th centrury patient with gigantism, whose skeleton is in the Hunterian Museum of the Royal College of Surgeons in London, had familial isolated pituitary adenoma (FIPA) and harboured an AIP mutation. His mutation has also been identified in several patients and families living today.
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