Posted: 18:49, 26 August 2022 | Updated: 21:35, 26 August 2022
The earliest clinical case of an extremely rare genetic disease that adversely affects testicular development has been discovered in the remains of a man who died 1,000 years ago in Portugal. Known as Klinefelter syndrome, this condition gives men an extra X chromosome that greatly affects motor skills such as standing and sitting, as well as their intellectual development – but it only occurs in about one in 1,000 genetically male births. Although archaeologists didn’t know the remains were riddled with disease, the skull bears signs of larger-than-average teeth and severe gum infection that destroyed the soft tissue in his mouth before death—both caused by genetic condition. Klinefelter syndrome was first described in 1942, but the earliest case, researchers say, provides a better understanding of how the disease may have evolved over time and its prevalence throughout history. Scroll down for videos The 1,000-year-old skeleton was discovered in an oval tomb in Portugal. The team extracted DNA from the remains to reveal that the man had Klinefelter syndrome. which occurs when there is an extra X chromosome The discovery, led by the Australian National University (ANU), was made while archaeologists were excavating the Torre Velha necropolis, where they have found 59 graves to date. The skeleton with the disease was buried in an oval-shaped, individual grave, without a cover or associated graves. He was placed in a supine position with his arms crossed over his chest, in the typical West-East orientation of Christian burials. The team began by analyzing genetic information obtained from a skeleton found in northeastern Portugal that was radiocarbon dated to the 11th century by researchers from the University of Coimbra in Portugal. The team combined genetic, statistical, archaeological and anthropological information to establish a definitive diagnosis after collecting the remains from the grave Dr João Teixeira with the ANU said in a statement: “We were immediately excited the first time we looked at the results. “However, ancient DNA is often degraded and of low quality and abundance, meaning we were initially cautious. Associate Professor Bastien Llamas, Head of Molecular Anthropology at the Australian Center for Ancient DNA, said: “In recent years, ancient DNA has helped rewrite the history of human populations worldwide. Our study demonstrates that it is now a valuable resource for biomedical research and the growing field of evolutionary medicine.” DNA was extracted by Ph.D. student at the University of Adelaide, Xavier Roca-Rada, who said “the genetic analysis was carried out to computationally map the degraded DNA fragments of the X and Y chromosomes to the reference human genome”. During burial, the man was placed in a supine position with his arms crossed over his chest, in the typical West-East orientation of Christian burials. Although archaeologists didn’t know the remains were riddled with the disease, the skull has signs like larger-than-average teeth and a severe gum infection that destroyed the soft tissue in his mouth before death. Given the specimen’s well-preserved condition, the researchers were also able to identify physical features of the skeleton consistent with Klinefelter syndrome. “Given the fragile state of DNA, we developed a new statistical method that could take into account the characteristics of ancient DNA and our observations to confirm the diagnosis,” said Dr. Teixeira. “While the study offers compelling evidence for the genetic history of Klinefelter syndrome, no sociological implications can be drawn from this diagnosis.” The researchers suggest that the new method of analyzing this particular skeleton can be further refined to study different chromosomal abnormalities in other archaeological samples, including Down syndrome.
