Down syndrome results from trisomy 21, where individuals carry three copies of chromosome 21, affecting brain development and causing intellectual and health challenges. The condition occurs in about one in 700 US births, with an estimated 250,000 people living with it. Scientists used CRISPR-Cas9 to delete the extra chromosome in lab-grown cells, distinguishing the duplicated chromosome from the two parental copies and preserving one maternal and one paternal chromosome. Corrected cells showed more typical gene-expression patterns and cellular behavior, notably in pathways linked to brain development. Broad clinical application remains unrealistic due to trillions of affected cells and delivery challenges, and genetic diversity complicates identification of consistent therapeutic targets.
Scientists from Mie University in Japan have used CRISPR-Cas9, a DNA-editing tool often described as 'molecular scissors,' to cut away the surplus chromosome in cells. Their system was able to distinguish the duplicated chromosome from the two original parental copies, ensuring the cell kept one from each parent rather than two identical versions. Those corrected cells began showing more typical patterns of gene activity and cellular behavior, especially in pathways linked to brain development.
'Removing an extra chromosome from a single cell has been possible for more than a decade, and CRISPR has made the process more precise,' Dr Roger Reeves of Johns Hopkins University School of Medicine told the Daily Mail. 'But a human body contains trillions of cells, each carrying the extra chromosome, so there is currently no realistic way to apply this as a treatment. Lab-grown cells are powerful research tools, but they don't replicate the full complexity of a developing human.'
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