A team of international researchers has made a groundbreaking discovery, unearthing evidence of an exceptionally rare genetic condition that bestows men with an additional X chromosome. This remarkable finding, representing the oldest clinical case of Klinefelter syndrome documented to date, stems from an analysis of a 1,000-year-old skeleton found in Portugal.
Led by Dr. João Teixeira, an ARC DECRA Fellow at The Australian National University (ANU), the study enlisted a multidisciplinary team comprising experts in genetics, statistics, archaeology, and anthropology. By synergizing various strands of evidence, including genetic data, radiocarbon dating, and physical traits observed in the skeletal remains, the researchers were able to definitively diagnose Klinefelter syndrome in the ancient individual.
Dr. Teixeira expressed initial excitement tempered with caution due to the challenges of working with ancient DNA, which is often degraded and scarce. However, the team’s perseverance paid off, shedding new light on the prevalence of Klinefelter syndrome throughout human history.
Associate Professor Bastien Llamas, Head of Molecular Anthropology at the Australian Center for Ancient DNA, underscored the transformative role of ancient DNA in both unraveling human population history and advancing biomedical research. The successful extraction and analysis of genetic material by Ph.D. student Xavier Roca-Rada from the University of Adelaide marked a pivotal milestone in the investigation.
The researchers developed innovative computational methods tailored to the unique characteristics of ancient DNA, enabling them to confirm the diagnosis of Klinefelter syndrome and glean insights into the individual’s physical attributes. While the study offers invaluable insights into the genetic history of this condition, the researchers cautioned against drawing sociological implications from the diagnostic findings.
Looking ahead, the team envisions further refinement of their analytical approach to explore other chromosomal abnormalities in archaeological specimens, including conditions like Down syndrome. Their pioneering work, published in The Lancet, underscores the potential of interdisciplinary collaboration and ancient DNA analysis to deepen our understanding of human health and evolution.
Source: Australian National University