Scientists have figured out how to send an "off switch" to the extra chromosome responsible for Down syndrome.
The new discovery marks the first real evidence that Down syndrome can be suppressed in a cell culture, a University of Massachusetts press release reported.
Researchers have high hopes for the future, they believe this discovery will help break new ground in the study of "cell pathologies and [will] identify genome-wide pathways implicated in the disorder."
"Genetic correction of hundreds of genes across an entire extra chromosome has remained outside the realm of possibility. Our hope is that for individuals living with Down syndrome, this proof-of-principal opens up multiple exciting new avenues for studying the disorder now, and brings into the realm of consideration research on the concept of 'chromosome therapy' in the future," lead author Jeanne B. Lawrence, said.
Humans have 23 pairs of chromosomes, two of which are sex chromosomes, adding up to 46 in each cell. People diagnosed with Down syndrome are born with an extra "21" chromosome.
An RNA gene called XIST normally turns off one of the two X chromosomes found in females. The gene also has the ability to help turn off the third 21 chromosome when using "patient-derived stem cells."
Down syndrome is extremely complex, and scientists have had trouble studying it in the past, with this new information it may be possible for them to pinpoint the exact genetic cause of the syndrome.
"This highlights the potential of this new experimental model to study a host of different questions in different human cell-types, and in Down syndrome mouse models," Lawrence said. "We now have a powerful tool for identifying and studying the cellular pathologies and pathways impacted directly due to over-expression of chromosome 21."
Research spawned from this new discovery could lead to the development of therapeutics for Down syndrome and similar disorders.
"In the short term the correction of Down syndrome cells in culture accelerates the study of cell pathology and translational research into therapeutics, but also for the longer-term, potential development of 'chromosome therapies,' which utilize epigenetic strategies to regulate chromosomes, is now at least conceivable," Lawrence said.
"Since therapeutic strategies for common chromosomal abnormalities like Down syndrome have received too little attention for too long, for the sake of millions of patients and their families across the U.S. and the world, we ought to try," she said.
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