Use CRISPR to remove additional chromosomes from Down syndrome

Japanese researchers have developed an accurate genetic technique that can remove additional chromosomes of Down syndrome in human cells, which may open up new avenues for the treatment of the most common genetic causes of cognitive impairment.

This pioneering study shows how modified versions of gene editing tools selectively target and eliminate additional copies of chromosome 21 that can lead to Down syndrome, effectively restoring normal cells in stem and dedicated human cells Function.

Lead researcher Ryotaro Hashizume explained that the research team has developed a new method to effectively target and remove specific chromosomes from the School of Medicine, MIE University School of Medicine, Japan. Their approach improves previous strategies by using more comprehensive and precise target systems.

Down syndrome is about one in every 700 live births worldwide, due to an additional copy of chromosome 21. Although extensive research has elucidated the clinical characteristics and genetic causes of the condition over the past half century, few studies have addressed its underlying cause – the presence – the presence of that additional chromosome.

The research team’s novel approach uses precise CRISPR-targeted versions to identify and cleave specific DNA sequences found only on additional chromosomes. This specificity is crucial because it allows them to remove only additional copies while keeping the ordinary chromosomes intact.

In laboratory tests, the technology successfully reduced the number of chromosomes from three chromosomes to normal in stem and skin cells, which were from patients with Down syndrome. When researchers also temporarily inhibited certain DNA repair mechanisms, correction rates in stem cells reached nearly 17%.

It is worth noting that cells that removed the additional chromosomes showed significant improvement in several regions. The treated cells exhibit increased growth rate and reduced production of harmful reactive oxygen species, a known problem in Down syndrome cells. The gene activity pattern is also closer to the one seen in cells without Down syndrome.

The researchers found that correcting chromosome numbers restored normal gene activity patterns and improved cellular function. Importantly, their techniques work not only in stem cells, but also in specialized cells that do not actively divide.

Although the study marks a significant technological achievement, the pathways to any potential clinical application are still long and complex. Current methods still lead to some unexpected genetic modifications in cells that have not successfully removed additional chromosomes, and extensive safety testing is required before any human trial begins.

The study also proposes important moral considerations about potential future treatments for Down syndrome, a situation that should not be viewed as something that needs a “curable”.

The researchers acknowledge these challenges while highlighting the scientific significance of their work. They expect their allele-specific approach “will lay the foundation for more complex medical interventions targeting trisomy.”

Going forward, the team proposes some areas of improvement, including developing methods that do not rely on DNA reduction and creating more efficient delivery systems for potential future therapeutic applications.

This study represents an important step in understanding how to manipulate chromosomes with precision, which may open up new avenues to not only treat Down syndrome, but also other chromosomal conditions.