For patients suffering from Down syndrome, the source of their condition can be traced back to just one extra chromosome inherited during development – chromosome 21.
While it is still unclear exactly how this extra copy causes the symptoms of Down syndrome – also known as trisomy 21, its presence in a person’s genetic code is associated with delayed cognitive ability, slowed physical development and a whole host of health conditions, including congenital heart disease, cancer and early on-set Alzheimer’s.
But now, researchers say they have found a way to turn off the extra copy of chromosome 21.
In a new study published online in the journal Nature, scientists from University of Massachusetts Medical School (UMMS) harnessed the abilities of a naturally occurring gene called XIST that acts as an “off switch” in X chromosomes. In a culture of stem cells, the researchers were able to repurpose the XIST gene so that instead of silencing X chromosomes, it silenced the extra chromosome 21 instead.
Though the research only shows proof-of-principle for turning off the chromosome – meaning the method is a long way from being utilized in humans – the findings have huge implications for the future of Down syndrome research. Researchers hope this study will pave the way for a better understanding of the disorder’s pathology and potentially help to create new therapeutic targets for therapies.
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