In 2003, road construction workers in a small town in Ireland discovered a long-lost cemetery.
Of the nearly 1,300 bodies found at the site near the town of Ballyhanna, several former visitors have been identified. Their bones were full of malignant tumors caused by a rare disease, but for very different reasons.
All of these people seem to have a genetic condition known as multiple osteochondromas, which cause painful but less dangerous tumors to grow in the bones, causing lameness, back problems, or nerve damage over time.
Today we know that this disease is very serious, it occurs in about one person in 50,000 people. Finding two bodies with this condition in such a small burial is a coincidence, especially since the genome analysis of the remains has been published in European Journal of Human Genetics found two men who left bones were not related.
In fact, their lives in this small Irish parish were separated by several centuries.
“We made a number of assumptions about the two men when we first discovered that they both suffered from multiple osteochondromas,” says archaeologist Eileen Murphy of Queen’s University Belfast, lead author of the study.
“We thought they were contemporaneous but radiocarbon dating shows they were separated by several centuries. We also thought they were related but new. [ancient DNA] analysis has shown that this is not the case. “
None of the skeletons excavated from the lost Ballyhanna burial ground appear to have been in the best possible health after death. Some show symptoms of tuberculosis or rickets.
But the bones of the two men who had bone spurs were very weak.
Archaeologists think the grave was part of a small Gaelic group that included men, women, and children. Some people may have been very poor, while others were farmers, workers, merchants, artisans, or religious leaders.
The discovery of two unrelated men with a rare bone disease occurring in such a small area is unusual in itself, and it is rare.
Despite their similar appearance, a recent analysis showed that two cases of multiple osteochondroma were not caused by the same genetic mutation.
All of these individuals showed mutations in the EXT1 gene, which has been linked to several osteochondromas. But one of the changes was not seen in modern patients.
The first person had a missense mutation in part of his EXT1 gene, where one nucleotide base was changed to another, knocking the protein out. It has already been identified in three modern patients with multiple osteochondromas.
The second person showed early leaves a message in the same gene that did not appear in the days visited the patient data.
The person with the new mutation died young, around 18 to 25, and showed deformities in his hips, knees, nose, and arm. He lived between 1031 and 1260 CE.
The man who died at an advanced age, about 30 or 40, had few tumors but they were visible in his bones. He lived between 689 and 975 CE.
“It was surprising that these individuals had such a wide range of mutations, particularly because they are rare,” says geneticist and first author Iseult Jackson of Trinity College Dublin.
The discovery just goes to show how modern DNA analysis can reveal diseases we’ve been dealing with for centuries.
“This study shows how important the analysis of ancient DNA can be to understanding the conditions that still affect people today,” says Trinity College Dublin ethnologist Dan Bradley.
The study was published in European Journal of Human Genetics.