A fascinating discovery has emerged from a cave in Italy, where a teenage girl was buried 12,000 years ago. Recent DNA analysis has shown that she had a rare genetic disorder called acromesomelic dysplasia, Maroteaux type (AMDM), which caused her limbs to be significantly shorter than average.
This finding marks the earliest DNA diagnosis of a genetic disorder in humans. Experts like Adrian Daly, a researcher at the University Hospital of Liège, call it a groundbreaking achievement for medical science. “Identifying a single gene change in a person from 12,000 years ago is remarkable,” he notes.
The girl, known as “Romito 2,” stood at just 3 feet, 7 inches tall. This challenges previous assumptions that her skeleton belonged to a male. DNA tests revealed her true identity. She was buried in a curled position alongside another individual, dubbed “Romito 1,” who turned out to be her close relative, likely her mother or sister.
While Romito 2 suffered from AMDM, Romito 1 was also shorter than average, measuring 4 feet, 9 inches. Interestingly, Romito 1 had one abnormal copy of the NPR2 gene, suggesting she experienced reduced growth, but not as severely as Romito 2, who had two abnormal copies.
Both Romito 1 and 2 were part of a group of ancient hunter-gatherers known as the Villabruna genetic cluster, which expanded across Europe around 14,000 years ago. Researchers do not believe inbreeding was prevalent among them, although the community near Romito Cave was likely small. Despite their conditions, evidence suggests they received care from their family members.
As for their deaths, it’s still a mystery. Their remains show no signs of trauma, and Romito 2’s diet was on par with others buried in the cave, indicating that her community likely supported her needs.
New discoveries like these not only deepen our understanding of ancient societies but also shed light on how they adapted to challenges, showing that care and compassion existed even in prehistoric times.
For more detailed insights about the genetic findings, you can read the full study published in The New England Journal of Medicine.
