Giant Race Comes From Mutant Gene
Dr. Marta Korbonits viewing Giant Charles Byrnes Skeleton Despite claims that he towered more than eight feet tall, skeletal evidence shows his height to have been just over seven feet seven inches.Celebrity life eventually got the better of Byrne, who took to drink and died at his home in Charing Cross aged just 22.

He was a giant of a man, who left his home in Ireland when he was 19 and traveled to London to make his fortune as a freak. There Charles Byrne, known as the Irish Giant, garnered wealth and fame.

But, suffering from tuberculosis and an excessive love of gin, he died a few years later, in 1783.

After his death, Byrne's body was acquired by the 18th century surgeon John Hunter, He bought Mr. Byrne’s corpse, boiled it in acid to remove the flesh, and exhibited the skeleton in his museum in London.

His skeleton remains at the Hunterian Museum at the London headquarters of the Royal College of Surgeons.And there the bones remained, studied in 1909 by the renowned American surgeon Harvey Cushing, who removed the top of the skull and pronounced that Mr. Byrne had had a pituitary tumor.

Other than that, Mr. Byrne remained a curiosity, a famous giant, the subject of a 1998 novel by the British writer Hilary Mantel

Yet, with only a skeleton remaining, of little interest to science.Until now: researchers in Britain and Germany have extracted DNA from Mr. Byrne’s teeth and solved the mystery of his excessive height.

It turned out to be a rare and mysterious gene mutation, discovered only in 2006. The researchers then found the mutation in four families from Northern Ireland, near where Mr. Byrne was born.

Following a hunch, they decided to ask whether Mr. Byrne had had the mutation, too, and whether the mutation indicated that the four families were related to him. Their hunch was right.

The group, led by Dr. Marta Korbonits, professor of endocrinology and metabolism at Barts and the London School of Medicine and Dentistry, reports its finding in the New England Journal of Medicine.

“It was not clear at all that we would have suitable DNA,” Dr. Korbonits said.The DNA turned out to be broken in many pieces, but it could still be analyzed.

The involvement of the gene, known as AIP, in pituitary tumors is a surprise, researchers say. Mutations in the gene are associated with about 20 percent of inherited pituitary tumors when no other organ is involved.

But it is not clear why mutations in this gene, which seems to be involved in metabolism — possibly to detoxify chemicals — can cause tumors or how these tumors form.

Dr. Constantine Stratakis “There is nothing solid scientifically,” said Dr. Constantine Stratakis, a geneticist and pituitary tumor researcher who is the Acting Scientific Director for the Division of Intramural Research at the National Institute of Child Health and Human Development

And for unknown reasons, only about 30 percent of people with the mutated gene develop tumors.

In London, Dr. Korbonits said she had been aware of the Irish Giant because of her work on pituitary tumors.

She suspected he might have had the AIP mutation when she saw a drawing of him standing with twin brothers who also were giants, who came from a nearby village, and who were said to be related to Mr. Byrne.

That, she said, “suggested it was a genetic disease.” And she had found the gene in members of four families from the same region of Ireland.

Dr. Joachim Burger Dr. Korbonits wrote to the Hunterian Museum, where Mr. Byrne’s skeleton is still displayed, and asked to test the giant’s DNA, and then she and her colleagues removed two of his molars.

She enlisted the help of an expert on ancient DNA, Joachim Burger of Gutenberg University in Mainz, Germany, to extract DNA from the giant’s teeth. She was worried that the DNA might be too degraded to analyze — after all, the giant’s corpse had been boiled in acid and then displayed in a museum for a couple of centuries.

The tumors can lead to disfigurement — patients develop bulging foreheads and large jaws, hands and feet — and chronic severe headaches.

They can also cause visual problems, because the tumor presses on the optic nerve

. They may even cause milk secretion, because the tumor can secrete prolactin, a hormone that is needed for fertility and to produce milk in the breasts.

Usually, tumors that secrete growth hormone start to grow in adulthood, after people have reached their full height.

But when tumors start growing in children or adolescents — as they do with many patients with the mutated gene — they can result in gigantism because they make the gland churn out growth hormone, prodding bones to keep growing.

Pituitary tumors are of great interest to researchers because they grow very slowly and almost never spread elsewhere in the body.

Dr. Shlomo Melmed Dr. Shlomo Melmed, a pituitary tumor researcher at Cedars-Sinai Medical Center in Los Angeles, explained that the tumor cells undergo premature aging. “We think it might be protective,” Dr. Melmed said, a reason the tumor does not spread.

Charles Byrnes Skeleton

Source & References:

Márta Korbonits MD, PhD

Dr.Shlomo Melmed

Dr. Joachim Burger

Ronan McCloskey

New York Times

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