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Scientists have managed to "turn off" the chromosome responsible for Down syndrome
Last reviewed: 01.07.2025
Genetic scientists from the University of Massachusetts in the United States reported that recent studies have proven the possibility of “switching off” the third chromosome from the last, twenty-first pair of chromosomes, the presence of which causes certain genetic problems in the development of the human body. Specialists are confident that a breakthrough in the field of genetics will help in the near future to cope with many genetic diseases that until now were considered incurable.
A group of American biologists have been working for a long time on studying the possibility of neutralizing the extra chromosome in the twenty-first pair. As is known, the third chromosome is the cause of Down syndrome - a genetic pathology. which is quite common in the modern world. Down syndrome is also called trisomy on the 21st pair of chromosomes. The pathology is characterized by the presence of an additional third copy of genetic material in the twenty-first pair of chromosomes.
The consequences may depend on genetic diseases, the state of the immune system and even simple chance. The basis of the new study was a method of genetic therapy, which was previously used to treat some diseases associated with genetic changes. Simple genetic deviations could be cured by eliminating the defective gene.
The head of the study chose to use the following method: an imitation of the “switching off” of one X-chromosome, which is present in every female, was carried out. During the experiment, scientists were able to grow a stem cell that contained 21 pairs of chromosomes and introduce a special gene into it that could block one of the two chromosomes in the pair. The researchers are confident that if this gene was able to temporarily switch off the action of one of the two chromosomes in the pair, then in the case of Down syndrome, when the last pair of chromosomes contains three chromosomes, the possibility of “switching off” the third becomes real.
American scientists conducted several experiments that confirmed the possibility of successfully implementing the plan. Geneticists conducted experiments on stem cells obtained from the epithelium of a person affected by Down syndrome. The presence of a special gene in the cells had the expected effect: one of the chromosomes in the twenty-first pair "switched off".
The work conducted by the Massachusetts researchers could be the beginning of a major study aimed at preventing and treating genetic diseases. At the moment, doctors are confident that in time it will be possible not only to determine which genes influence neurodegenerative symptoms, but also to manipulate specific genes.
Of course, there is still a long way to go before such methods can be widely used, but the first steps have already been taken, the head of the study believes. The possibility of “switching off” a chromosome and the possibility of controlling specific genes can be considered a victory.