DNA samples reveal cases of Down Syndrome in prehistoric humans

Ancient DNA analysis has opened a window into the past, revealing instances of Down Syndrome in historical populations from Bronze and Iron Ages.

DNA samples reveal cases of Down Syndrome in prehistoric humans

Remains of individual “CRU001”, a boy who died at or shortly before birth and was buried in Alto de la Cruz. RIght - Aerial view of the Early Iron Age settlement of Alto de la Cruz, Navarra, during the 1989 excavation campaign.

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Ancient DNA analysis has opened a window into the past, revealing instances of Down Syndrome in historical populations.

This genetic disorder affects around one in every 1,000 newborns today.

Researchers at the Max Planck Institute for Evolutionary Anthropology explored the ancient past’s genetic conditions.

They have gathered ancient human DNA dating back tens of thousands of years. The scientists examined more than 10,000 DNA samples in this new study. 

They were able to identify six people who all had an extra copy of Chromosome 21, which is an indication of Down Syndrome.

All six individuals died at a very young age

These instances span diverse historical periods. 

​​One instance, uncovered in a Finnish church graveyard, can be traced back to the 17th to 18th century. 

The remaining five people, dating back 5,000 to 2,500 years, were discovered at Bronze Age sites in Greece and Bulgaria and Iron Age sites in Spain.

These prehistoric individuals with Down Syndrome faced challenging times, with all six succumbing to an early fate, most never reaching the age of one.

The absence of treatment most certainly led to their early death. Individuals with Down Syndrome can now live longer lives, thanks to the advancements in modern medicine.

They were laid to rest carefully, surrounded by colored bead necklaces, bronze rings, and sea shells – tokens of appreciation from their ancient societies. The five burials were found to be located within settlements. 

“These burials seem to show us that these individuals were cared for and appreciated as part of their ancient societies,” said Adam “Ben” Rohrlach. 

Reconstruction of the Early Iron Age settlement of Las Eretas, Navarra.

One ancient case of rare Edwards Syndrome identified

But the research doesn’t end there. Amidst the quest for Down Syndrome cases, the researchers stumbled upon another enigma – an individual from the Spanish Iron Age with an unexpected genetic anomaly.

This individual carried three copies of Chromosome 18, a rare condition known as Edwards Syndrome, with far more severe health implications than Down Syndrome.

Edwards Syndrome occurs in fewer than one case per 3,000 births. 

“At the moment, we cannot say why we find so many cases at these sites [Spanish Iron Age],” said Roberto Risch, an archaeologist of the Universitat Autònoma de Barcelona, who works on intramural funerary rites.

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Risch further added: “But we know that they belonged to the few children who received the privilege to be buried inside the houses after death. This already is a hint that they were perceived as special babies.”

The team highlights that these revelations are just the beginning. With the number of DNA samples growing, the researchers strive to unveil how ancient societies cared for those who needed a helping hand or were slightly different.

“What we would like to learn is how ancient societies reacted to individuals that may have needed a helping hand or were simply a bit different,” said Kay Prüfer, who coordinated the DNA sequence analysis, in the press release.

The findings were reported in the journal Nature Communications.

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