The chances of developing an effective treatment for Down syndrome in the future are increasing. Scientists from the Medical University of Massachusetts were able to turn off the activity of extra chromosome 21 in human cells taken from sick people.
The gene therapies used so far were usually based on correcting the function of one defective gene. Until recently, silencing the activity of the entire chromosome was beyond the reach of scientists. A team of researchers led by Dr. Jeanne Lawrence found a way.
The scientists placed the XIST gene in stem cells taken from a person with Down syndrome. In healthy cells, the task of this gene is to switch off the activity of one of the two copies of the X chromosome, which prevents the overexpression of the underlying genes in the developing female organism. After activating the XIST gene with tetracycline, it turned out that the third copy of chromosome 21 was turned off and the cells began to develop normally.
In the next stage of the research, the scientists plan to test the new technique on mouse embryos with trisomy 21. However, they reserve that it will be many years before, if at all, a similar method can be applied to people with Down syndrome or other genetic disorders consisting in the presence of excess chromosomes .
Sources: BBC News / The Guardian