A necessary premise: people with Down syndrome lead an absolutely fulfilling and autonomous life on a social, personal, family and professional level.
However, Down syndrome can have effects on cognitive abilities that make it more difficult to exercise memory or learning. Difficulties that many researchers consider irreversible and untreatable.
Today, however, researchers from the University of San Francisco in California and Baylor College of Medicine say they have reversed these effects of Down syndrome on rodent specimens, foreshadowing a future where medicine can do the same with humans by improving people's quality of life.
All people with Down syndrome share one trait in common: an extra copy of chromosome 21. For this reason many researchers have focused their work in the field of genetics.
Reversing the cognitive effects of down syndrome: the study published yesterday
In the study published yesterday in the prestigious scientific journal Science the research team focused on the protein-producing cells in the brains of Down syndrome mice. The finding was that the hippocampus region produces an average of 39% less protein than mice without Down syndrome.
A more in-depth study led to the conclusion that the presence of an extra chromosome is connected with the behavior of hippocampal cells. These trigger the integrated stress response, which reduces protein production.
"Cells constantly monitor their status," says the researcher Peter Walter in a Press release.
“When something goes wrong, cells respond by producing less protein: a typical reaction to cellular stress. To keep cognitive functions high, however, a complete synthesis of proteinr is necessary: when it is reduced, cognitive problems can arise ”.
By stopping the activity of the protein kinase R, or PKR, responsible for the integrated stress response in mice, researchers not only restored complete protein production, but also improved cognitive functions in mice.
Obviously the fact that it works on mice doesn't automatically mean that it will work on humans.
However, when the researchers analyzed brain tissue of deceased people with down syndrome, they found evidence that they too brain the integrated stress response was activated.