12,000-Year-Old Ice Age Burial Reveals Rare Genetic Disorder in Prehistoric Family
More than 12,000 years ago, two closely-related women – possibly a mother and daughter – were laid to rest in a loving embrace. These Ice Age hunter-gatherers were found to be shorter than average for their population, with one of them significantly shorter. Thanks to modern genetic techniques, researchers from Europe were able to uncover the reason behind their stature.
The bodies were first discovered in the Grotta del Romito in southern Italy in 1963. Through a new analysis of the ancient DNA recovered from the left inner ear of each individual, the team identified specific mutations in their genes. This revealed that the pair were female first-degree relatives, likely a mother and daughter.
The younger woman was diagnosed with acromesomelic dysplasia, Maroteaux type (AMDM), a rare genetic disorder affecting bone growth. This discovery represents the earliest evidence of the disorder ever found. AMDM is caused by mutations in the NPR2 gene, which plays a crucial role in skeletal development.
According to anthropologist Daniel Fernandes, the older woman likely carried a milder form of the mutation, while the younger one had two non-functional copies of the NPR2 gene, resulting in the severe effects of AMDM. Despite her physical limitations, it is believed that the girl was cared for by her family, as she survived until late adolescence.
Living in a hunter-gatherer society, the girl would have faced challenges in traversing the landscape due to her restricted range of motion. However, the support and care provided by her family allowed her to overcome these obstacles. The researchers emphasize that this finding highlights the long history of humans taking care of each other.
Adrian Daly of Liège University Hospital Centre suggests that understanding the history of rare genetic diseases like AMDM can aid in recognizing and treating similar conditions today. This study, published in The New England Journal of Medicine, sheds light on the familial connection and resilience of our ancient ancestors.
