The Best of 2013 // #78: Turning off the Down Syndrome Chromosome

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Scientists have found a way to ‘turn off’ the extra chromosome responsible for causing Down syndrome.  Outlined in July’s Nature, the new technique isn’t a cure, but it could help shed some light on the condition’s effect on cells and help build a treatment for the symptoms.

/READ MORE// Growing Stem Cells in Animals

The body has a gene called XIST, which turns off the second x chromosome in females.  The gene essentially turns off the chromosome by covering it with other molecules so it can’t product proteins.  In Down Syndrome, instead of having two copies of chromosome 21, people have three, causing changes in how the body and brain develop.  Using cells from Down syndrome patients, scientists from the University of Massachusetts Medical School took the XIST gene and put it into the third copy of chromosome 21.

The XIST gene succeeded in ‘turning off’ the Down-causing chromosome, letting the cells grow faster in the lab – meaning they were functioning normally.

Researchers are now looking into turning this method into a treatment

“There are multiple systems affected in Down syndrome, and this could be applied to different ones in different ways,”
Jeanne Lawrence, cellular biologist, Study Lead

Since people with Down Syndrome have a higher risk of heart problems and leukaemia, silencing the extra chromosome in heart or bone marrow may improve the health of them and lead to insights on how to treat those without Down syndrome but with cardiac problems or leukaemia.

There’s more stories from 2013.  Check out the Best of 2013 series here

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