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What is Klinefelter Syndrome?

The "blueprint" for the proteins vital for biological processes, DNA, is properly packaged into the nucleus of a cell, where it is tightly coiled around histone proteins. Our parents gave us chromosomes, which are clusters of DNA threads, 23 from our mother and 23 from our father. Humans have 46 chromosomes, which contain all of a person's genes and DNA. A person's gender is determined by two of these chromosomes, known as the sex chromosomes. Females have 2 X chromosomes. So that is (XX). Males have XY chromosomes (XY).

Klinefelter Syndrome is an ultra rare genetic but non-hereditary condition that gives men an additional X chromosome (XXY). In this occurrence, part of the male's body cells have an extra X chromosome, while the remainder have the typical number of XY chromosomes. Depending on the circumstances, a different percentage of cells may have an extra chromosome.

It may have an influence on intellectual and physical growth. Affected people are typically taller than average, and infertility is the most prevalent symptom.

What is the Earliest Case?

A 1,000-year-old skeleton unearthed from a medieval Portuguese archeological site has just revealed the earliest recorded case of  Klinefelter Syndrome. It was radiocarbon dated back to the 11th century. The Australian study team received the adult male skeleton, who was believed to have been 25 years old at the time of death.

"We were immediately excited the first time we looked at the results," said evolutionary biologist Joao Teixeira. "However, ancient DNA, is often degraded and of low quality and abundance, meaning we were initially cautious."

DNA analysis on ancient specimens isn't always possible. After we pass away, our long, tangled chromosome-containing DNA tends to decay and get chopped up by bacteria.

There simply aren't enough long strands present at times to extract a substantial amount of data. Even so, ancient DNA can still provide a wealth of clues about an individual, including their ancestry and more.

The findings, according to the researchers, will enhance knowledge of the prevalence of Klinefelter Syndrome throughout human history and aid in developing a historical record for the condition.

“Our research shows the immense potential of combining different lines of evidence to study the human past, and the frequency of different health conditions through time,” Dr Teixeira said.

Anyways, that's it for today. Please make sure to follow the podcast (Evolution Unraveled), and tune in for the next episode!

(Available on Spotify, Apple Podcasts, Audible, Google Podcasts, iHeart, etc.)

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Sany A
Sany A
Nov 02, 2022


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