Sunday 24 September 2017

Irish 'giant gene' could be treated if it is spotted early

Most carriers are unaffected but around 20pc are affected by the condition, which can be fatal if untreated. (Stock photo)
Most carriers are unaffected but around 20pc are affected by the condition, which can be fatal if untreated. (Stock photo)

Lynne Kelleher

One of the leading experts on gigantism is hoping early treatment can halt the excessive growth caused by the condition in Irish people.

An area of Northern Ireland was recently identified as a "giant hotspot" by scientists studying a gene defect which can be traced back to an Irish person born 2,500 years ago and causes people to grow abnormally tall.

One in 150 people in Mid-Ulster were found to carry the gene - called AIP - which is extremely rare outside Northern Ireland.

It can result in too much growth hormone, which is produced and released by the pituitary gland, a pea-sized gland just below the brain.

In a new BBC radio documentary, 'Bones', Professor Marta Korbonits, who discovered the Irish giant gene, said the key to curbing the excessive growth is to identify the carriers as early as possible.

"We cannot make people shorter. From that point of view, we cannot treat the giants," said the professor of endocrinology at Barts and the London School of Medicine. "We certainly can treat the disease. Gigantism is quite an awful disease with a huge number of complications."

It is hoped increased awareness and screening will identify those at risk of passing on the gene to future generations, leading to earlier diagnosis and treatment which can halt the excessive growth.

The over-production of growth hormone occurs as the result of a benign tumour in the gland, which can be removed through surgery while medication can also be used to treat the condition, which has been narrowed down to 18 families in Ireland. Patients usually start to show symptoms between the age of 10 and 20, but children can now be treated from as young as three.

Most carriers are unaffected but around 20pc are affected by the condition, which can be fatal if untreated.

"They very often have headaches which are the first, and most common and most troubling symptom," said Prof Korbonits. "Even at a young age, they develop joint problems."

The 'gigantism gene' was identified in the DNA of an 18th century man known as the 'Irish Giant' called Charles Byrne, who stood almost eight feet tall and was cruelly treated as a freak of nature in Victorian London.

Tyrone man Brendan Holland, who is 6ft 9in and who is related to Byrne, was only diagnosed with pituitary gigantism after he went to London when he was 20.

Irish Independent

Editor's Choice

Also in Irish News