Search for race of giants in Mid Ulster
A TEAM of international scientists are to descend on the Mid-Ulster area in search of a race of giants that may have left behind a cemetery of giant skeletons.
Geneticists from Queen’s University and Queen Mary University of London believe that this part of Tyrone is a hotspot for the rare genetic condition that leads to gigantism.
They are appealing for local people to take part in screening for the genetic defect, which is due to take place on 8 and 9 February (8am-8pm) in Tesco carpark, Cookstown, and on 1 and 2 March (8am-8pm) in Tesco carpark, Dungannon.
While most people who carry the 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 side vision and hormone disturbances.
It is estimated 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.
Researchers want to identify carriers so that they, and their families, can access treatment to help prevent potential health problems in the future.
The scientific search for the gene was instigated two years ago by Killeeshil man Brendan Holland, who is 6 feet 9 inches, and a former sufferer of pituary adenoma which leads to gigantism.
Mr Holland, the subject of a BBC documentary aired in 2011, took part in genetic research which shows that he is genetically related to the Irish Giant, Charles Byrne, who found fame in the 1780s exhibiting himself as a curiosity or ‘freak’.
Byrne’s 7-foot-7-inch skeleton is a medical marvel on display at The Royal College of Surgeons in London.
Mr Holland had always been baffled by his extremely tall stature since both his parents and siblings were of average height.
When he was about 13, he started growing rapidly, about 2 inches a year, he recalled. “I was constantly tired, had tremendous headaches, and was developing tunnel vision.”
Mr Holland’s doctor discovered he had a tumour on his pituitary gland that was causing his body to pump out too much growth hormone. After the tumour, a pituitary adenoma, was found and treated when he was 20, he stopped growing.
In a study published in the New England Journal of Medicine, scientists looked at four modern-day Northern Ireland families, including Mr Holland’s, and noticed the same genetic mutation in these families as they found in the 18th-century Irish Giant.
Using DNA extracted from Charles Byrne’s teeth, the researchers speculate that they could trace the roots of the Irish study participants and the Irish Giant’s inherited gene mutation for gigantism to a common ancestor who lived an estimated 1425 to 1650 years earlier -- or 57 to 66 generations ago.
The findings have a additional meaning to Mr Holland because he has two sons. “I know that my children or my grandchildren could be screened for this rogue gene and if they are sufferers (of familial isolated pituitary adenoma), they can be given early treatment.”
In an exclusive interview with the Tyrone Times, Mr Holland revealed that his own research had found details of a cemetery unearthed by quarry excavations near Magherafelt in the 1830s.
“Through careful research, I discovered a set of Ordnance Survey Memoirs which describe how the limestone quarry revealed a set of graves with the bones of giants.
“Scientists now hope to uncover the graves and find out if the bones can be matched with Byrne’s DNA.
“My mother’s family were Conlons and McCuskers and they came from the lough-shore area. A lot of exciting research will now stem from these findings.
“Children of the carriers have a 50% chance of getting the rogue gene. Speaking from my own experience it is a tough condition to have, and requires surgery to treat.”
Professor Patrick Morrison, honorary professor of human genetics at Queen’s University Belfast will analyse the samples collected after this week’s screening process.
He said: “The particular gene mutation for which people will be screened is for a gene called AIP, which causes abnormal growth of the pituitary gland. It was first identified in 2011 in patients from South Derry and East Tyrone who are living with ‘familial acromegaly’ – an inherited form of acromegaly or ‘gigantism’.
“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 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.”
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.
“We also know, however, 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 originate 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.”
Participants will receive information about their test results. Those individuals thought to carry the genetic abnormality will be referred to the Genetic Clinic in Belfast City Hospital for further advice and confirmation of the test result. Further family screening can then be arranged.
For details on the study visit www.fipapatients.org/population
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Friday 24 May 2013
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