Scientists are exploring a new approach to treat Down syndrome by using CRISPR technology to remove the extra chromosome 21, potentially improving cellular function and offering new hope for those affected. This research holds the potential to revolutionize how we approach genetic conditions, offering a chance to alleviate symptoms and improve the quality of life for individuals with Down syndrome.
Down syndrome, also known as trisomy 21, arises from an extra copy of chromosome 21, leading to developmental differences. Researchers have been searching for ways to address this duplication directly. Recent work, led by Ryotaro Hashizume and colleagues at Mie University in Japan, suggests a promising approach using CRISPR-based methods. They found that removing the extra chromosome in affected cells can bring their behavior closer to typical function.
The added chromosome disrupts many important processes in the body, often causing learning difficulties and health concerns. This extra genetic material increases gene activity, causing cells to overwork. CRISPR-Cas9, a gene-editing system, uses an enzyme to recognize specific DNA sequences and cut the DNA strands. Scientists design CRISPR guides to target the unwanted chromosome, a technique called allele-specific editing.
Hashizume's team discovered that removing the extra copy often normalized gene expression in lab-grown cells. The treated cells showed typical protein production and better survival rates, indicating relief from the excess genetic burden. While not yet ready for clinical use, scientists are considering similar edits in cells that form the brain and other tissues. The possibility of trimming excess genetic material in non-dividing cells is also intriguing.
Researchers observed that genes related to nervous system development became more active after removing the extra chromosome, while those linked to metabolism decreased. This shift in gene expression could explain how correcting the chromosomal imbalance affects the cell's behavior. The method was also applied to skin fibroblasts, mature, non-stem cells from individuals with Down syndrome, successfully removing the extra chromosome in many cases.
The corrected cells grew slightly faster and had a shorter doubling time. They also produced fewer reactive oxygen species, harmful byproducts linked to cell damage. The researchers are refining their guidance molecules to target only the extra chromosome 21 and investigating ways to prevent the cell's repair systems from reversing the edits. If confirmed, these findings could lead to therapies that address the genetic overload at its source, potentially improving the lives of those with Down syndrome and offering a new approach to genetic conditions.