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Japanese scientists have developed a method for removing the chromosome associated with Down syndrome
Down syndrome is the most common chromosomal abnormality caused by the presence of an extra copy of chromosome 21 (trisomy 21). This genetic disorder leads to physical characteristics, developmental delays, including congenital heart defects, hearing impairments, and learning and speech difficulties. However, researchers at Mie University (Japan) have made an important breakthrough—they have developed a gene editing method that can remove the extra chromosome.
The results of the study, published in the journal PNAS Nexus, describe how the CRISPR/Cas9 system, used to modify DNA, can remove the extra chromosome from affected cells. CRISPR uses enzymes to search for specific DNA sequences and, once a match is found, is capable of removing entire strands of genetic material. In this case, the scientists developed CRISPR guide molecules that target trisomy 21 exclusively. This method, known as allele-specific editing, allows the enzyme to act only on the desired target. During the experiment, the researchers found that after removing the extra chromosome, gene expression in the cultured cells normalized.
Further tests showed that after editing, genes associated with the development of the nervous system became more active, while those responsible for metabolism slowed down. In addition, the corrected cells began to grow faster, and their division time was reduced compared to untreated samples.
In addition to laboratory cell cultures, scientists tested CRISPR on skin fibroblasts taken from people with Down syndrome. The method worked again, successfully removing the extra chromosome in several cases. However, CRISPR can also affect healthy cells, so researchers emphasize that the technology is still a long way from clinical application. The team is currently working on improving the technique so that editing only affects cells with trisomy.
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