As reported in the New York Times and published in the New England Journal of Medicine, researchers have successfully extracted DNA from the skeleton of Charles Byrne, who was known during his lifetime (1761-1783) as the “Irish Giant.” Measuring in at a towering 7’7″, he apparently died of the combined effects of tuberculosis and “an excessive love of gin.” His body was purchased soon after his death, after which it was boiled in acid and put on display at a museum in London. Some years later, after the removal of the top of his skull, it was determined that he suffered from a pituitary tumor. The pituitary gland sits at the base of the brain and regulates, among other things, the release of growth hormone. So, Byrne essentially suffered from growth hormone gone haywire.

The skeleton of Charles Byrne (Photo credit: Ronan McCloskey)

What’s interesting (at least for our purposes here) is that DNA analysis discovered that Byrne had a genetic mutation in his AIP gene.  These sorts of mutations are rare: only about 5% of people with pituitary tumors inherited them via a mutated gene. This particular mutation is so rare that when researchers found the same mutation among four families from Northern Ireland, they determined that these families are in fact related to Byrne (they shared a common ancestor 55 to 67 generations ago, or about 1,500 years ago).

The mutation probably occurs in other populations, either through shared ancestry or spontaneous mutation. Cool stuff.

References

Chahal, H.S., Stals, K., Unterländer, M., Balding, D.J., Thomas, M.G., Kumar, A.V., Besser, M.G., Atkinson, B.A., Morrison, P.J., M.D.; Howlett, Trevor A. M.D.; Levy, Miles J. M.D.; Orme, Steve M. M.D.; Akker, Scott A. M.B., B.S., Ph.D.; Abel, Richard L. Ph.D.; Grossman, A.B., Burger, J., Ellard, S., Korbonits, M. (2011). AIP mutation in pituitary adenomas in the 18th Century and today. New England Journal of Medicine 364: 43-50.

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