A team of scientists removed the third copy of chromosome 21 which leads to the development of Down syndrome without altering the other chromosomes
A team of Japanese scientists took an important step forward in the genetic research succeeding in Eliminate, in the laboratory, the excess chromosome responsible for Down syndrome. Using Crispr-Cas9 technology, scholars of my medical University and Fujita Health University have shown that it is possible to selectively remove the extra copy of chromosome 21 in human cells.
The results of this experimentation, published in the magazine Pnas Nexusthey could open the way for new therapeutic strategies to face the genetic conditions caused by chromosomal anomalies. Down syndrome is due to presence of a third copy of the chromosome 21which alters the physical and cognitive development of those who are affected.
Although medicine has made great strides in the early diagnosis and in the treatment of some complications related to syndrome, to date There were solutions to directly correct the genetic cause at the base of the condition. This new approach, based on an innovative variant of Crispr-Cas9, has been designed to selectively identify and remove the excess chromosome without altering others.
This discovery could also have implications for other pathologies caused by chromosomal anomalies
The experiments were conducted on induced pluripotent stem cells (IPSC), derived from fibroblasts of a patient with down syndrome. The analyzes have shown that, after the intervention, the cells they had a correct number of chromosomes and a reduction in cell stress. The method has also shown to work on cells that had already completed their division cycle, suggesting a large applicability of the technique.
Despite the promising results, researchers underline that This experimentation is still in a preliminary phase and far from clinical use. Several technical challenges remain to be overcome, how to improve the effectiveness of the removal of the excess chromosome and avoid any unwanted alterations of the DNA. Furthermore, the application of this technology on living organisms raises important ethical issuesin particular as regards Possible interventions on human embryo in the early stages of development.
Scholars believe that this discovery could have implications not only for Down syndrome, but also for Other pathologies caused by chromosomal anomalies. If further developed, the technique could represent a first step towards new forms of gene therapy capable of directly correct the genetic code of human cells. For now, however, the work focuses on the understanding of the cellular mechanisms involved and on the improvement of technology, pending future developments that could revolutionize the approach to medical genetics.
