Researchers in Japan have announced a significant breakthrough in the field of gene therapy. This was reported by Upl.uz.
This achievement could fundamentally change the methods of treating Down syndrome. According to information published by the scientific portal Vietnam.vn and the journal PNAS Nexus, scientists have successfully removed an extra copy of chromosome 21 for the first time.
Chromosome 21 is considered the main cause of this genetic disorder. In laboratory conditions, the capabilities of the CRISPR-Cas9 gene editing system were demonstrated on human cells.
This technology works like a molecular "scalpel," identifying the extra chromosome copy and removing it without damaging the remaining 46 chromosomes. The research team led by Professor Ryotaro Hasidzume from Mie University developed special guiding molecules that specifically target the third copy of chromosome 21.
The results of laboratory tests showed that after genetic intervention, significant biological indicators were restored in 37.5 percent of cases. In these cells, the growth and division rates, gene activity, and antioxidant defense returned to normal.
It was also found that the activity of genes responsible for the development of the nervous system increased, indicating the positive effects of this therapy. Down syndrome, or trisomy 21, occurs in approximately 1 in 700 newborns.
This condition leads to developmental issues and health risks, including congenital heart defects and susceptibility to other diseases. Until now, medicine has focused only on measures to alleviate symptoms, and there was no possibility of addressing the genetic cause.
Despite the results achieved, the authors of the study emphasize that this technology is not yet ready for clinical application. The main problem is the risk of accidentally damaging healthy genes during the gene editing process.
Without thoroughly studying such safety issues and long-term effects, testing on humans cannot be conducted. At the same time, this achievement opens new possibilities in the field of gene therapy and regenerative medicine.
The CRISPR-Cas9 technology is inspired by the natural defense mechanism of bacteria. Bacteria use this system to identify and cut the DNA of viruses.
Scientists have adapted this natural process for editing the genes of humans and other organisms. This has ushered in a new era in gene therapy.
