Ancient Teenager's Unique Story Uncovered Through DNA

Deep in a cave in Italy, scientists made an astonishing discovery. They found the remains of a teenager who lived 12,000 years ago. This young person had a rare condition that affected her bones. Her arms and legs were much shorter than usual. This condition is called acromesomelic dysplasia, Maroteaux type (AMD). It is caused by changes in a specific gene that controls bone growth.

The teenager, nicknamed Romito 2, was only about 3 feet 7 inches tall. Scientists initially thought she was a boy, but DNA tests proved otherwise. She was buried in a special position, embraced by another adult. This adult, Romito 1, was also a female and likely a close relative, possibly her mother or sister.

Romito 1 was shorter than average for that time, but not as much as Romito 2. This is because Romito 1 had only one copy of the faulty gene, while Romito 2 had two. This shows how genes can affect our bodies in different ways.

The DNA analysis also revealed something interesting about their community. They were part of a group called the Villabruna cluster. These people were hunter-gatherers who moved from Southern Europe to other parts of Europe around 14,000 years ago. The study did not find evidence of inbreeding, but the group was probably small.

The remains of Romito 1 and Romito 2 showed no signs of trauma, so scientists do not know how they died. However, Romito 2's diet and health were similar to those of other people buried in the cave. This suggests that her community took care of her despite her condition.

This discovery is significant because it is the earliest DNA diagnosis of a genetic disease in modern humans. It shows how advanced our understanding of genetics has become. By studying ancient DNA, scientists can learn more about the lives of people from the past and how they coped with different challenges.