You may have heard of Down syndrome, a common chromosomal abnormality caused by an extra piece of the body's chromosome 21. It affects about 1 in 700 newborns, and patients often suffer from cognitive impairment and other problems. How to effectively treat Down syndrome has long been a key focus of medical research around the world. Recently, in a study entitled “Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cells” published in the international journal PNAS Nexus, the researchers reported that the Down's syndrome patients were treated with CRISPR-Cas9 in trisomy 21 cells. “In an in vitro proof-of-concept study conducted by scientists from Mie University and other institutions in Japan, the results suggest that gene editing technology may ultimately be able to treat human trisomy 21 at the cellular level.
Focusing on trisomy 21 cells, the research team innovatively utilized CRISPR-Cas9 gene editing technology to correct chromosomal abnormalities through allele-specific multi-chromosome cleavage, opening up a new pathway to overcome Down syndrome. In short, the research team found a way to precisely “cut” the extra chromosomes.
During the experiment, the researchers carefully cultivated trisomy 21-induced pluripotent stem cells and skin fibroblasts, and skillfully screened out specific Cas9 targets from the whole genome sequencing results. They constructed special expression vectors and transferred them into the cells, just like “injecting” the cells with precise “genetic scissors”. In order to improve the efficiency of “cutting”, they also inhibited the DNA repair genes in the cells, and found that the rate of chromosome loss was significantly increased.
Characterization of allelic loss resulting from Cas9-induced chromosomal breaks
The experimental results are exciting! This allele-specific cleavage strategy was so effective that it not only excelled in pluripotent stem cells, but also worked in differentiated cells and even non-dividing cells. It successfully corrected the chromosomal karyotype of the cells, allowing for improved gene expression and phenotype. To put it in an analogy, it is like rearranging the chaotic genetic “jigsaw puzzles” into their proper places, and the cells are back to their normal “working condition”.
However, the researchers are also very conscious of the fact that the current research results are still only a phase. If you want to really apply this technology to clinical treatment, there are still a lot of difficult problems to be solved, such as how to reduce the impact on normal genes, how to optimize the technology to improve the rate of chromosome elimination, as well as how to push the technology from the laboratory to the actual medical scenarios and so on.
But no matter what, this research result is undoubtedly an important breakthrough in the field of Down syndrome treatment. It provides a solid theoretical and practical foundation for the development of more effective treatments in the future, and gives us a glimpse of the dawn of conquering Down syndrome. It is expected that the researchers will overcome the difficulties soon, so that this technology can benefit more patients!
Post comments