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Down syndrome treatment found? (MOD: UW scientists remove trisomy in cell line)

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11-10-2012, 02:03 AM
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Krishna
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Down syndrome treatment found? (MOD: UW scientists remove trisomy in cell line)

http://www.washington.edu/news/2012/...ome-cell-line/
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University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body’s cells contain three copies of chromosome 21 rather than the usual pair.

A triplicate of any chromosome is a serious genetic abnormality called a trisomy. Trisomies account for almost one-quarter of pregnancy loss from spontaneous miscarriages, according to the research team. Besides Down syndrome (trisomy 21), some other human trisomies are extra Y or X chromosomes, and Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13), both of which have extremely high newborn fatality rates.

In their report appearing in the Nov. 2 edition of Cell Stem Cell, a team led by Dr. Li B. Li of the UW Department of Medicine described how they corrected trisomy 21 in human cell lines they grew in the lab. The senior scientists on the project were gene therapy researchers Dr. David W. Russell, professor of medicine and biochemistry, and Dr. Thalia Papayannopoulou, professor of medicine.

The targeted removal of a human trisomy, they noted, could have both clinical and research applications.

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11-10-2012, 12:30 PM
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Hank Chinaski
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Krishna, I've modified the title.

What I've gathered in the article is that this isn't a potential cure for a chromosomal disorder (in fact, the UW researcher interviewed in the article said as much), but rather opens up doors for potential treatment (namely, gene replacement therapy) for those with Down syndrome. More importantly, it gives researchers a great tool to study developmental differences of trisomy 21 cells vs. the cell from the same individual with the trisomy removed.

Nice find.

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11-13-2012, 09:41 AM
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If a therapy is created from this, I wonder how exactly it would change a person. Would they all of a sudden become smarter or more social? What about an individual that has a particular talent (idiot savant as they are often known), would the talent be lost?

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11-13-2012, 10:04 AM
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In order to "cure" Down Syndrome, wouldn't virtually every cell in the person's body have to be replaced?

Or is it just a certain type of cell that would have to be replaced, then the other cells would follow suit?

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11-13-2012, 09:19 PM
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Quote:
Originally Posted by Plan The Parade View Post
In order to "cure" Down Syndrome, wouldn't virtually every cell in the person's body have to be replaced?

Or is it just a certain type of cell that would have to be replaced, then the other cells would follow suit?
Assuming that it does lead to a "cure" based on removing the chromosomes, I would imagine some organs would be more affected than others. If they could target the treatment to specific cells, there might be other cells that do not require treatment because the trisomy does not have as big an effect on those cells.

There would also be efficiency issues, no treatment could affect 100% of targeted cells. What would be left is a genetic mosaic, in which case the balance of the two conditions (with/without trisomy) could determine the overall function. Many conditions that naturally occur as genetic mosaics show milder phenotypes than the full variants.

Treating some cells (such as neural cells) would probably be extremely hard. Cell lines that rapidly divide (such as epithelial cells, skin cells, liver cells, etc.) would yield better results since treated cells would divide into two normal daughter cells, but non-dividing tissues would be much harder.

But as has been stated, the idea of a "cure" is way down the line. It appears that the initial idea might be to utilize stem cells to improve certain systems (namely the immune system).

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11-13-2012, 11:04 PM
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Hank Chinaski
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Quote:
Originally Posted by Plan The Parade View Post
In order to "cure" Down Syndrome, wouldn't virtually every cell in the person's body have to be replaced?

Or is it just a certain type of cell that would have to be replaced, then the other cells would follow suit?
The trisomy (extra 21st chromosome) leads to largely irreversible effects during development of the fetus, so this isn't a possibility once a child with Down Syndrome is born. I think if you were talking about a "cure" for Down Syndrome that would remove the trisomy so that all cells would follow suit, it would have to target the totipotent or possibly multipotent cells at the very beginning of development.

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