Our DNA contains 23 pairs of chromosomes. It is our genetic material and it is the main cause of being who we are, inside and out. In people with Down syndrome, couple number 21 is repeatedly forming a trio and causing an intellectual disability that affects one in every 700 children born. Now, thanks to genetic engineering, scientists have managed to deactivate the extra gene in stem cells, which could open the doors of new treatments .
The new work, published in the scientific journal Nature, describes the way in which researchers at the University of Massachusetts have managed to inactivate this third chromosome. Starting from a cell culture obtained from stem cells from people with Down syndrome, the scientists inserted a gene called XIST on the third chromosome, whose mission is to “silence” it. To do this, the gene produces an RNA molecule that envelops the chromosome like a blanket, nullifying it .
As the head of the project Jeanne B. Lawrence explains “there is a gene on the X chromosome called XIST (X-inactivation gene) that normally is responsible for turning off one of the two X chromosomes found in female cells, causing the expression of X-linked genes similar to that of men, who only have one X chromosome. “
So, using genetic engineering techniques, they have inserted the Xist gene into one of the chromosomes of triplet 21 that contain stem cells from people with Down syndrome. And et voilá! science managed in this way to silence the third chromosome causing the problem.
Down syndrome is the leading genetic cause of intellectual disability worldwide, and it carries many other problems. Immune system deficiencies, brain problems and congenital heart defects are some of the causes that, in the long run, reduce their life expectancy.
This new scientific finding does not mean that the syndrome can be cured, far from it, but it opens the doors to new treatments and possible therapies that end this genetic problem and other similar ones, such as Patau syndrome, associated with chromosome number 13.
