The bones of an Irish Giant have helped researchers identify a genetic mutation that is the cause of a condition called acromegaly. This condition is heritable, and there are between 200 and 300 people today who carry the genetic mutation. Thanks to this research, it may be possible for a blood test to identify and treat people who have this genetic mutation before they exhibit symptoms of acromegaly.
Acromegaly is a chronic metabolic disorder. Too much growth hormone is produced, and this causes the body tissues to gradually enlarge more than would be typically expected. The growth occurs after the bones and other organs have finished growing to their full size. Other names for acromegaly are: somatotroph adenoma, growth hormon excess, pituitary giant, or gigantism. People in your family might be taller than average. This is not the same, genetically and metabolically speaking, as having gigantism. People who have acromegaly have thickened skin, enlarged hands and feet, distorted facial features, and organs that are overly large. Eyesight may be affected, and the condition can also cause headaches and sweating.
Charles Byrne is the name of the man who was knows as “The Irish Giant”. He was born in Northern Ireland in 1761. He was seven feet and seven inches tall, and made his living by exhibiting himself as a “curiosity” or “freak”. Some time after Charles died, the Hunterian Museum in London was able to display his bones.
At first, researchers were looking at a gene called an aryl hydrocarbon receptor interacting protein. Certain defects to that gene were associated with a genetic predisposition for a person to develop a pituitary tumor. Acromegaly runs in families. Researchers looked at the DNA of people who had acromegaly in their family tree, and were able to identify a specific genetic mutation.
Researches also took DNA from two of the teeth from The Irish Giant’s skeleton. Analysis of that DNA provided some interesting information. It turned out that The Irish Giant had the exact same genetic mutation as the people who had acromegaly in their family tree. The conclusion is that The Irish Giant inherited this mutated gene from an ancestor. Irish families who suffer from acromegaly today share that same ancestor with Charles Byrne.
Now that the genetically heritable mutation has been discovered, it might be possible to identify the people who carry it in their DNA with a simple blood test. This could, potentially, lead to new treatment for those who suffer from acromegaly today. It may also enable doctors to administer prescribed treatments for this disease earlier, before things progress too far.
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