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Removing an extra chromosome will not cure Down syndrome
Last reviewed: 01.07.2025
Removing the extra chromosome will not cure Down syndrome, but it may help medical scientists with further research.
Researchers at the University of Washington have successfully removed the third copy of chromosome 21 from a human cell line with Down syndrome.
The cause of Down syndrome is a chromosomal pathology: in the chromosome set (karyotype) of a person in the 21st pair there are three chromosomes instead of two (trisomy). Trisomies are also the cause of a number of other syndromes, in particular Edwards syndrome and Patau syndrome.
A team of scientists from the Washington University School of Medicine has succeeded in removing the extra 21st chromosome from the chromosome set of human cells grown in the laboratory.
According to scientists, correction of trisomy could have both clinical and research significance.
Down syndrome is the most common trisomy. People with this pathology have characteristic eyes, faces and hands. This syndrome can cause many health problems (mental impairment, dementia, heart defects, premature aging, some forms of leukemia).
"We're not trying to say that the trisomy correction method we used can help treat Down syndrome," explains lead author Dr. David Russell. "We're looking at ways that medical scientists can develop cell therapies to correct some of the blood-forming disorders that accompany Down syndrome."
Russell hopes his findings will help bring about the day when cell therapy can be used to treat leukemia in people with Down syndrome. He also says further research in this area could help understand the relationship between the extra chromosome 21 and the medical problems associated with Down syndrome.
Russell said it took a lot of work to figure out the exact method for removing the extra chromosome, but his colleague Dr. Li Bi Li, through hard work, was able to correct a number of errors that were made during the first attempt to extract the chromosome from the chromosome set.
The scientists used an adeno-associated virus to deliver a foreign gene to the desired location on chromosome 21. To avoid being killed by the gene, the cell had to get rid of it along with the extra copy of the chromosome.
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