Incredible coincidence discovered in a long-lost medieval cemetery

Incredible coincidence discovered in a long-lost medieval cemetery

In 2003, workers building a highway through a small township in Ireland stumbled across a long-lost medieval graveyard.

Of the approximately 1,300 bodies found at the site near Ballyhanna township, a few of the older interred stood out. Their bones were riddled with benign tumors caused by a rare disease, but for oddly different reasons.

Both individuals appeared to have a genetic condition known as multiple osteochondromas, which causes painful but usually non-malignant tumors to grow in the bones, leading to limb deformity, postural problems or nerve damage over time. .

Today we know that the disease is far from common and affects approximately one in 50,000 people. Finding two bodies with the condition in such a small cemetery is a coincidence, especially since a genome analysis remains published in the European Journal of Human Genetics finds that the two men who left the bones were not closely related.

In fact, their lives in this small Irish parish were separated by centuries.

“We made several assumptions about these two men when we first realized that they both suffered from multiple osteochondromas,” says archaeologist Eileen Murphy of Queen’s University Belfast, lead author of the study. .

“We assumed they were contemporaneous, but radiocarbon dating showed they were several hundred years apart. We also assumed they were related, but the new [ancient DNA] analysis has shown that this is not the case.”

None of the skeletons unearthed at the Lost Graveyard of Ballyhanna appear to be in particularly good health when they died. Some show signs of tuberculosis or rickets.

But the bones of the two men with bony growths were particularly unhealthy.

Archaeologists suspect the graveyard was once part of a medieval, lower-class Gaelic community that included men, women and children. Some people were probably very poor, while others worked as farmers, laborers, merchants, artisans, or clergy.

Finding two unrelated men with the same rare bone disease in such a small community is unusual in itself, and it gets even weirder.

Despite their similar appearances, the recent analysis revealed that the two cases of multiple osteochondromas were not even caused by the same genetic mutation.

The individuals both showed changes in the EXT1 gene, which has been linked to multiple osteochondromas. But one of the mutations has never been seen in modern patients.

The first man had a missense mutation in part of his EXT1 gene, whereby a single nucleotide base was swapped for another, scrambling the sequence coded for the protein. It has already been identified in at least three modern patients with multiple osteochondromas.

The second man showed an early termination message in the same gene that has yet to show up in modern sequencing data from patients with the disease.

The individual carrying the new mutation died at a younger age, between 18 and 25, and had deformities in the hips, knees, ankle and forearm. He lived between 1031 and 1260 CE.

The individual who died at a later age, around 30 or 40, had less pronounced tumors but they were evident throughout his skeleton. He lived between 689 and 975 CE.

“It was really surprising that these people had completely different mutations driving their condition, especially because it’s so rare,” says geneticist and first author Iseult Jackson of Trinity College Dublin.

This discovery shows how modern DNA analysis can reveal diseases that have accompanied 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 people today,” says Dan Bradley, a geneticist at Trinity College Dublin.

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

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