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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 Alzheimer's disease. 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."

Source: Science Blog

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RE: Tasteless
By ClownPuncher on 7/18/2013 2:37:53 PM , Rating: 1
Please. Raising a child with Down Syndrome should be something that helps parents become better people. The idea that you'd treat a special needs child as a statistic is part of the problem. I don't look at a disabled person and see a drain on society. I see a person.

A world without strife, adversity or perspective sounds horrible. You get the children you get. You shouldn't "shop" for the right kid by aborting ones that might be harder to raise.

RE: Tasteless
By Motoman on 7/18/2013 3:01:59 PM , Rating: 4
Or, you could choose to not live a life filled with torment and distress, and force someone else to live a life with little to no value, by aborting and trying again.

I'm not saying it's an easy decision. I'm saying I put a lot of value in the lifelong opinion of someone who's lived through it.

RE: Tasteless
By ClownPuncher on 7/18/2013 3:21:40 PM , Rating: 5
People are willing to adopt those children. I'm actually sort of Pro Choice, but I would never try to convince anyone that abortion is the right choice in cases like these.

People with Down Syndrome DO live a life of value. They have unique perspective and can love their family just as much as anyone else.

RE: Tasteless
By Motoman on 7/18/2013 3:36:55 PM , Rating: 2
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.

RE: Tasteless
By seamonkey79 on 7/18/2013 4:09:05 PM , Rating: 4
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.

RE: Tasteless
By Lord 666 on 7/18/2013 5:16:39 PM , Rating: 3
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.

RE: Tasteless
By arazok on 7/18/2013 5:04:30 PM , Rating: 3
You don’t need to convince anyone. It’s almost a certainty once the tests come in.

91-93% of pregnancies are terminated after a positive test for Down Syndrome.

I agree it’s completely a parental decision, and I would never fault someone for making either choice.

You almost never see this condition any more (I know of nobody touched with this affliction). It was once something that was somewhat common to see. My OP was a bad joke, but it has a ring of truth.

RE: Tasteless
By invidious on 7/18/2013 4:08:37 PM , Rating: 2
I don't look at a disabled person and see a drain on society. I see a person.
The OP's intent is not to spare society of the burden, it is to spare the individual and their family from pain. The fact that you can't descern compassion from utility is disturbing.

Valuing human life is about compassion and respect, not imposing your ideals about what life should be.

RE: Tasteless
By Motoman on 7/18/2013 4:26:51 PM , Rating: 2
That's it exactly. From my own viewpoint, I couldn't justify bringing such a person into the world. Speaking for myself, I feel there's a moral obligation to *not* set a person and his/her family up for a lifetime of anguish.

RE: Tasteless
By ClownPuncher on 7/18/2013 5:03:16 PM , Rating: 3
I see it as cowardice, not compassion. I understand the intent, but I think it is flawed reasoning and not good advice to give to all parents. In some cases, maybe.

Aborting a possible invalid isn't imposing your ideals about what life should be? But my opinion is?

RE: Tasteless
By Motoman on 7/18/2013 5:39:04 PM , Rating: 2
They both are, granted that you become aware of that information at a point at which the pregnancy could be terminated.

RE: Tasteless
By ClownPuncher on 7/18/2013 5:57:40 PM , Rating: 2
I appreciate that you're willing to have an intelligent discussion about it.

RE: Tasteless
By Motoman on 7/18/2013 8:04:29 PM , Rating: 2
It's not a subject to be taken lightly, and it's gut-wrenching to have to deal with in the first place.

The fact of the matter is though, if you go to the doctor and seek information on the baby before it's born and become aware of a birth defect, you're basically enforcing your own ideals on life whichever way you go at that point.

The only way to not do that is of course to just not do any such tests and go straight through with the pregnancy. Which lots of people do too.

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