Extremely Rare Disease Coincidence Found in Medieval Graveyard

Extremely Rare Disease Coincidence Found in Medieval Graveyard

Back in 2003, a medieval graveyard was discovered in Ireland by workers building a highway through the small town of Ballyhanna.

No less than 1.300 bodies were found at the site but two specific ones managed to stand out from all the others.

This is because their skeletal remains were filled with benign tumors seemingly caused by a really rare disease.

However, the reasons were weirdly different.

Apparently, both of the dead had suffered from multiple osteochondromas,  a genetic condition that causes typically non-malignant but still really painful tumors to grow in their bones.

This usually leads to limb deformity, nerve damage and postural issues over time.

Now, we finally know that this illness is really uncommon, only occurring in about 1 in 50,000 people, which means that finding two skeletons with this condition in the same graveyard, is a huge coincidence.

This is especially the case since the two males found were not closely related either and lived in separate centuries!

Eileen Murphy, an archaeologist from Queen’s University Belfast, and a senior author on this study, explains that “We made several assumptions about these 2 men when we first realized they both had suffered from multiple osteochondromas. We assumed that they were contemporary but radiocarbon dating showed that they were separated by several hundred years. We assumed they were related as well but the new [ancient DNA] analysis demonstrated that this isn’t the case.”

Furthermore, all skeletons discovered in the lost graveyard suggest that they were in bad health when they passed, some of them showing signs of having suffered from rickets or tuberculosis at the time of their death.

But of course, the skeletons of the two men who presented bony outgrowths were in an especially rough shape even when compared to all others.

The experts suspect that the graveyard used to be part of a medieval Gaelic community that included multiple social classes, including the very poor, laborers, farmers, artisans, merchants and the clergy.

But discovering two unrelated men with the same rare disease in the same small community graveyard becomes even more of a crazy coincidence when we take into account the fact that the disease was not even caused by the same genetic mutation in both cases.

This is what recent analysis shows.

The men showed EXT1 gene changes, which have indeed been associated with multiple osteochondromas but one of the mutations has yet to be observed in any modern patients.

One of the men presented a missense mutation in a part of his EXT1 gene, which means only a nucleotide base was swapped, scrambling the encoded sequence for the protein.

This has previously been seen in three or more modern patients.

The other man, however, only showed a premature stop message in the same gene, something that’s never been identified before in any other patients.

This second individual lived between 1031 and 1260 CE and supposedly passed at a younger age, somewhere between 18 and 25.

In his case, the disease caused deformities in his forearm, ankle, knees and hips.

The first individual, on the other hand, who lived between 689 and 975 CE, passed at the age of 30-40 and had less pronounced tumors.

The author, Iseult Jackson, explains that “It was very surprising that these individuals had entirely different mutations causing their condition, especially because it is so rare.”

Geneticist Dan Bradley also points out that “The study shows the important contribution ancient DNA analysis on people from our past can make to understanding some conditions that still affect people today.”

Katherine Baldwin

Katherine is just getting her start as a journalist. She attended a technical school while still in high school where she learned a variety of skills, from photography to nutrition. Her enthusiasm for both natural and human sciences is real so she particularly enjoys covering topics on medicine and the environment.

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