More than 23,000 years ago, a young woman living with acromesomelic dysplasia, a rare genetic disorder, received care from her family in what is now southern Italy. This insight comes from a re-examination of remains discovered in 1963 within the Grotta del Romito, a significant archaeological site in the Papasidero region of Calabria.
An international team of researchers, utilizing advanced ancient DNA analysis, confirmed the pair – found in an apparent embrace – were a mother and daughter. The analysis, published in The Fresh England Journal of Medicine, identified specific mutations in the NPR2 gene, responsible for skeletal growth, in both individuals. The younger woman carried two non-functional copies of the gene, resulting in a diagnosis of acromesomelic dysplasia, Maroteaux type (AMDM), the earliest confirmed case of the disorder.
The older woman, while as well exhibiting a mutation in the NPR2 gene, possessed only one non-functional copy. This heterozygous mutation resulted in milder short stature, demonstrating the varying effects of the same gene within a prehistoric family, according to anthropologist Daniel Fernandes of the University of Coimbra in Portugal, the study’s first author. “Identifying both individuals as female and closely related turns this burial into a familial genetic case,” Fernandes stated.
The Grotta del Romito, located within the Parco nazionale del Pollino, has long been recognized for its Paleolithic art and archaeological significance. Excavations in the 1960s, led by Paolo Graziosi and later by Mara Guerri and Santo Tinè, unearthed numerous artifacts and human remains. Current research is being conducted by the Unit of Prehistory at the University of Florence.
AMDM affects bone growth, limiting range of motion, particularly in the arms and hands. For a hunter-gatherer, such physical limitations would have presented significant challenges to survival. Yet, the researchers found evidence suggesting the young woman received consistent care, maintaining a diet and nutritional status comparable to others found at the site. “She survived… until late adolescence with a diet and nutritional stress similar to that of other Romito persons, which suggests that the challenges she faced were met by the provision of care in her family group,” Fernandes and his team wrote.
The discovery adds to a growing body of evidence indicating that humans provided care for one another long before the advent of civilization. The Grotta del Romito has yielded evidence of human activity dating back as far as 23,000 years ago, with the site also containing evidence of use as a hermitage around the year 1000 AD by monks from the nearby monastery of Sant’Elia, giving rise to the name “Grotta del Romito” (the Hermit’s Cave). The site has attracted over 12,000 visitors in 2022.
“Rare genetic diseases are not a modern phenomenon but have been present throughout human history,” said Adrian Daly of Liège University Hospital Centre in Belgium. “Understanding their history may help recognizing such conditions today.”
