Scientists from the University of Coimbra (UC) have identified a rare genetic anomaly in a man who lived in Bragança a thousand years ago and who had an extra copy of the X chromosome, the so-called Klinefelter syndrome.
In a press release sent to the Lusa agency, the UC explained that the man “lived about a thousand years ago in Castro de Avelãs, Bragança, during medieval times,” and that the find “will be allow us to perceive the incidence of Klinefelter in the ancestors and opens the possibility of studying the frequency of this and other genetic syndromes in the past through the analysis of human fossils”.
Klinefelter syndrome, identified in the 20th century, is a rare disease that exclusively affects menwhich may present, among other symptoms, osteoporosis, obesity, increased breast volume, infertility and high hip size and diameter.
The investigation of the UC interdisciplinary team, made up of specialists in genetics, statistics, archeology and anthropology, focused on a skeleton from the 11th century, found in 2012 in the Torre Velha archaeological site, in Castro de Avelãs, on the outskirts of Braganca.
The study, coordinated by João C. Teixeira, a Portuguese researcher in human genetics affiliated with the University of Coimbra (currently working at the Australian National University), initially consisted of collecting DNA from the skeleton, which was later recovered in the specialized laboratory of the Australian Center for Ancient DNA at the Australian University of Adelaide.
According to the UC statement, the results obtained “suggested that the individual from Castro de Avelãs would have two copies of the X chromosome and one of the Y chromosome, indicative of Klinefelter Syndrome.”
After confirming the genetic results, a team of anthropologists from the University of Coimbra “found morphological evidence in the skeleton compatible with Klinefelter, in particular a tall stature and an enlarged hip diameter.”
On the other hand, the team found no evidence of osteoporosis, which affects about 40% of people with Klinefelter syndrome.”
In addition to this discovery, the research team also developed a new statistical method, “which may allow, in the future, to diagnose other chromosomal abnormalities, such as cases of Down syndrome, and can also be applied to forensic medicine and pre-diagnosis contexts”.-natal”, revealed João C. Teixeira.
The archaeological intervention in Torre Velha resulted from a protocol signed in June 2012 between the University of Coimbra and the municipality of Bragança.
At the time, the UC defined the archaeological site, where vestiges from Roman times to medieval times were discovered, as “one of the most outstanding due to the exceptional nature of the findings” and “one of the most cited in the archaeological bibliography related to the entire Trás-os-Montes region”.
Source: Observadora
