Lost Medieval Graveyard With Over 1,300 Bodies Reveals Mutation Mystery

Story by Robyn White • 

An ancient graveyard holding over 1,300 medieval bodies has revealed a bone mutation mystery.


In this combination image, a stock image of a cemetery and bone found by Queens University Belfast© Getty/ queens university belast

Scientists from Queen's University Belfast and Trinity College Dublin discovered that two men, hidden within the graveyard at Ballyhanna, suffered from a condition called multiple osteochondromas, which causes benign bone tumors.

The long lost Gaelic medieval graveyard was unearthed during the construction of a large bypass in County Donegal, northwestern Ireland. It dates back more than 1,000 years.

The condition the two men suffered from stemmed from a genetic mutation within their EXT1 gene.

It was initially assumed that the men would have been related, and lived during the same time. But it turns out that the two men weren't related at all, and lived hundreds of years apart, findings published in the European Journal of Human Genetics reported.

While the condition affected the same gene, the two men had completely different mutations.

Multiple osteochondromas is incredibly rare and only occurs in 1 in 50,000 people. One of the men suffered from a mutation that has been recorded in patients today, the study found. But the other has never been seen in sequencing data before. It's also the first time a new disease mutation has been found in ancient genomic data.

Iseult Jackson, from Trinity's School of Genetics and Microbiology and first author of the study, said in a press release: "It was really surprising that these individuals had completely different mutations causing their condition, especially because it's so rare."

Those buried there would have been farmers, labourers, merchants, artisans, clergy and the very poor, Queens University said in a press release.

Others among the 1,300 buried at the lost graveyard also had skeletal indicators of stress and ill health. Some were found to have suffered from tuberculosis.

These two men likely suffered from the rare condition, as while the tumors are benign, they can cause limb deformity and extreme pain. The condition can also cause nerve compression, and in a small amount of cases, malignancy.

Professor Dan Bradley, from Trinity's School of Genetics and Microbiology, said in a statement: "Discovery of the mutations that cause serious diseases through application of whole genome sequencing has been a key medical breakthrough in recent years, but this is the first time this has been applied to ancient individuals.

The study demonstrates the important contribution that ancient DNA analysis on people from the past can make to understanding conditions that still affect people today."

The findings will allow scientists to build on osteoarchaeological research, the study said.

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References

Iseult Jackson et al, Genetic causes of bone tumors discovered in 1,000-year-old Irish skeletons, European Journal of Human Genetics, published November 28, doi 10.1038/s41431-022-01219-2