A prehistoric case of Edwards syndrome found for the first time

Subject: Environment

Section: Species in news

Context:

Researchers have uncovered evidence of chromosomal disorders in prehistoric skeletal remains, dating back up to 5,500 years, marking a significant discovery in the field of ancient genetics.

Details:

This includes six cases of Down syndrome and one case of Edwards syndrome, as detailed in a study published in Nature Communications.
This research potentially marks the first identification of Edwards syndrome from historic or prehistoric remains.
Chromosomal trisomy, the condition leading to these disorders, involves having three copies of a chromosome instead of the usual two.
Down syndrome results from trisomy of chromosome 21, and Edwards syndrome from chromosome 18.
The study involved screening almost 10,000 genomes from ancient human remains across Europe.
The findings indicate that individuals with these chromosomal disorders often died at or shortly after birth, with some cases dating back to the Bronze Age (around 2,700 BCE) and the Neolithic period (around 3,500 BCE).
The research also highlights that certain societies may have had a higher frequency of burials for individuals with trisomy conditions, particularly in early Iron Age Spain (800-400 BCE), suggesting a level of care and recognition for these individuals within their communities.
Notably, some were given exceptional burials or elaborate grave goods, indicating their inclusion and value in their societies despite their genetic disorders.
This study not only sheds light on the prevalence of genetic disorders in ancient populations but also provides insights into how these societies perceived and treated individuals with such conditions.

About Dawn syndrome:

Dawn syndrome is a genetic disorder, caused by the presence of an extra chromosome 21 also known as trisomy of chromosome 21.
It is one of the leading causes of genetic disorders around the world.
Types of Down syndrome: There are three types of Down syndrome.
- Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
- Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
- Mosaic Down syndrome: Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21.
The primary symptoms of Down’s Syndrome are as follows:
- Mental retardation
- Cognitive impairment may be mild to moderate
- Tilted eyes or Fold of the skin above the eye etc.
Treatment: Down syndrome is a lifelong condition and it cannot be cured. Early therapy programs can help improve skills.

Source: TH