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Discovered a strange coincidence in a medieval cemetery

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In 2003, workers building a highway in a small Irish town stumbled upon a medieval cemetery. Of the approximately 1,300 bodies found at the site near the town of Ballyhanna, a couple of buried bodies stood out from the others because their bones were filled with benign tumors caused by a rare disease. Both appeared to have a genetic condition known as multiple osteochondromas, which causes painful but typically nonmalignant tumors to grow in the bones, which over time lead to limb deformities, postural problems or nerve damage.

 

Today we know that the disease is far from common: it occurs in about one in 50,000 people. Finding two affected bodies in such a small cemetery is a real coincidence , especially since a genome analysis of the remains published in the European Journal of Human Genetics found that the two men were not closely related . By the way, their lives in this small Irish community had been separated for several centuries.

“When we realized that both had multiple osteochondromas, we made several hypotheses about these two men,” explains archaeologist Eileen Murphy of Queen’s University Belfast, author of the study. “We assumed they were contemporaries, but radiocarbon dating showed they were several hundred years apart. We also thought they were related, but the new (DNA) analysis showed that this is not the case.”

Archaeologists suspect that the cemetery was part of a lower-class medieval Gaelic community that included men, women and children. Some individuals were probably very poor, while others worked as farmers, labourers, merchants, craftsmen or clergymen.

 

The discovery of two unrelated men with the same rare bone disease in such a small community is unusual in itself, but it is made even stranger by the fact that, despite looking similar, recent analysis revealed that the two cases of multiple osteochondroma were not even caused by the same genetic mutation.

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Both individuals had alterations in the EXT1 gene , which has been linked to multiple osteochondromas. But one of the mutations has never been observed in patients who have this disease in our age.

The individual with the new mutation died at a younger age, between the ages of 18 and 25, and exhibited deformities of the hips, knees, ankles and forearms. He lived between 1031 and 1260 AD. The individual who died at an older age, around the age of 30 or 40, had less pronounced but evident tumors throughout the skeleton. He lived between 689 and 975 AD.

 

“It was really surprising that these individuals had completely different mutations causing their condition, especially since it is so rare,” says geneticist and first author Iseult Jackson of Trinity College Dublin. The discovery demonstrates how much modern DNA analysis can reveal about diseases that have been with us for millennia.

“The study demonstrates the important contribution that analyzing ancient DNA on people from the past can make to understanding conditions that still affect us today,” says Dan Bradley, geneticist at Trinity College Dublin.

The study was published in the European Journal of Human Genetics.

 

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