Researchers Mute Extra Chromosome Responsible for Down Syndrome
July 18, 2013 12:25 PM
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The team used an RNA gene called XIST
Researchers have found a way to mute an extra chromosome known for causing trisomy 21, or Down syndrome.
Scientists at UMass Medical School -- led by Jeanne B. Lawrence, PhD, professor of cell & developmental biology -- have used an RNA gene to hush the chromosome responsible for Down syndrome, which could open new possibilities for studying the condition.
People with Down syndrome have three copies of chromosome 21 instead of two, causing trisomy 21. This leads to cognitive disability and early-onset
. It can also cause other complications, such as heart defects.
The team used an RNA gene called XIST -- which typically silences one of the X chromosomes found in females -- as inspiration for the study. The large XIST RNA is created during early development from one of the two X chromosomes in the female, and has the ability to prevent the X chromosome's DNA from being expressed to produce proteins. This makes the genes on the chromosome silent.
Using this idea, the team collected induced pluripotent stem cells from fibroblast cells donated by a Down syndrome patient. The researchers then used zinc finger nuclease (ZFN) technology to place the XIST gene in the extra chromosome 21.
The results showed that the XIST RNA
successfully muted genes
across the extra chromosome and stopped it from working. Gene expression levels returned to a more normal state from there.
It also showed that XIST is capable of reversing the problems with cell proliferation and neural cell differentiation found in Down syndrome cells.
“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," said Lawrence.
"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."
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7/18/2013 3:36:55 PM
Maybe, maybe not. Obviously there's a big spectrum there.
This young man, in specific, I think it's safe to say got nothing out of life at all. Which is very sad. For him and those around him. He was basically cataleptic.
Some people with Down are only very slightly so - and can function pretty much normally. Others can't. Unfortunately, as far as I know there's no way to be able to discern the level of dysfunction that a baby has in utero.
7/18/2013 4:09:05 PM
Just like 'normal' people have a wide variation in their actual capabilities and development, a downs syndrome person is going to be limited / helped by the way that people around them interact. Case in point, my niece, has parents that love her and are doing everything they can to help her develop. She now communicates (at 2) better than my 4 year old nephew from my other sister, because they decided that they weren't going to 'put up with' her 'disability' but were going to do everything they could to make sure she had as much chance as she could to lead a full life. She is learning sign language (which makes her quieter and more communicative than most her age) and teaching her that has made my other nieces develop in ways that are helping them out as well as they're helping her out.
The idea that because someone has a 'disability' and should be aborted is insulting to humanity as a whole. Are we so incapable of adapting to situations that we'd rather kill someone than help them?
I'm all for curing it, but the idea that killing them makes any sense is repulsive.
7/18/2013 5:16:39 PM
Well said. My youngest is special needs and there are good days and some challenging ones. Without a doubt she is daddy's little girl and I wouldn't change a thing.
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