Is there a radical treatment for Down syndrome? (Part 2)

Scientific dreams of treating Down syndrome

Simulation of brain cells from patients with Down syndrome is a promising potential treatment

Chromosomes are thread-like parts located inside cells, and carry genetic information, so-called genes.

And as it was previously said in previous articles that normal children are born with a distinct and fixed number of them, which is 46 chromosomes (23 pairs), children with Down syndrome have a problem which is the presence of a third copy of chromosome number 21, which negatively affects the development and Child’s mind and body development.

In an attempt to control this syndrome, which affects about 6,000 babies every year in the United States of America, a study conducted by Rutgers University found that targeting the OLIG2 gene on chromosome 21 before birth could help in the future treatment of the syndrome.

During the study, whose results were published in the journal Cell Stem Cell, the researchers used stem cells that can turn into brain cells to develop two experimental models:

One of them is a three-dimensional model of the brain, and the other is a mouse brain model with human cells implanted inside 

In order to explore the early brain development associated with Down syndrome, and to monitor the improvement that can be achieved when targeting the “OLIG2” gene. They found that this restores balance to two types of neurons in the brain that are responsible for excitation and inhibition, and it also helps to improve awareness after birth.

According to a report published on the Rutgers University website in conjunction with the publication of the study, the researchers obtained skin cells from children with Down syndrome (somatic cells), then genetically reprogrammed them into embryonic stem cells, and then transformed them into cells similar to brain cells during early life and growth.

Scientific note: Stem cells can be converted into any type of cell in the human body, but they cannot produce a complete organ. They are also useful tools for drug development and production of laboratory models to understand diseases, which is what the American research team did.

“Using brain cells derived from stem cells with an extra copy of chromosome 21, we developed a three-dimensional brain organoid model that resembles the developing human brain in patients with Down syndrome, we also developed a mouse brain model, and transplanted human brain cells derived from stem cells into it, and then noticed what happened.

“We found that inhibitory neurons – which make the brain run smoothly – were overproduced in both models, and this affected memory in adult mice. We found that the OLIG2 gene plays an important role in these effects and that inhibiting it led to improvements.”

These results may lead in the future to a therapeutic strategy targeting the gene (OLIG2) before birth to control the increased numbers born with Down syndrome, as confirmed by Dr. Jiang.

According to World Health Organization statistics, the number of people with Down syndrome is estimated between 1 of 1000 to 1 of 1100 births worldwide. Children with Down syndrome are usually diagnosed before or during birth.

Although the two brain models, whether the first one that developed a 3D model that resembles the brain of people with the syndrome, and the mouse brain with human cells implanted inside it, were designed to study Down syndrome, Dr. Jiang stresses that it is a valid idea for studying other neurodevelopmental disorders such as autism spectrum disorder.

He added: “It may also help scientists to better understand the mechanisms in Alzheimer’s disease, especially since patients with Down syndrome often develop early Alzheimer’s disease.