BBC News has published an article today on their website today about British cellular research showing that the addition of that extra twenty first chromosome changed the embryonic stem cells they studied.
The study, in the American Journal of Human Genetics, says the extra chromosome sets off a chain of genetic changes in the developing embryo...
The international team of researchers, which also included scientists from the US, Australia, Spain and Switzerland, looked at embryonic stem cells from mice which had been genetically engineered to carry a copy of human chromosome 21.
They discovered that the presence of the extra chromosome 21, known as trisomy 21, disturbs a key regulating gene called REST, which then disturbs the cascade of other genes that control normal development at the embryonic stem cell stage.
The scientists also found that one gene (DYRK1A) which is present on chromosome 21, acts as the trigger for this disturbance.
Dean Nizetic, professor of cellular and molecular biology at Barts and the London, said the work could one day lead to molecule-based therapies which could alleviate the effects of Down's syndrome.
"We hope that further research might lead to clues for the design of new therapeutic approaches tackling developmental delay, mental retardation, ageing and regeneration of brain cells, and Alzheimer's disease.
He said he believed the genetic effects continue throughout life.
"I suspect that it's not just important for the development of brain cells but for their maintenance throughout life; how cells age and how they can cope with stress.
"That's an area that could be approached with regard to therapies."
And thanks to Jeanne at Blogging Down, I discovered this interesting piece on brain development in Down syndrome. As Jeanne wisely warned, this video does not utilize People First Language, and as we all know, it irks me to no end when Down syndrome is defined as a disease ( For the love of god, what part of syndrome is misunderstood?), but my own issues don't negate the value of this research. They just make me crabby about it.
Food for thought, eh?
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5 ChatterBoxes:
WOW!!! Thank you so much Emily for sharing this EXCELLENT post, VERY interesting !!! THANK YOU :D
Great Post! I'm going to mention this on my blog! I've been following this! P.s. We have the same template! I love what you did with yours!
Very interesting but it made me a bit sad too:(. It makes me so anxious when they mention the deterioration of cognition possibly starting in their twenties...Sigh.
Thanks for posting this tho!
Yeah Starrlife, I completely understand. It hurt a bit to watch the T21 neurons fire slower than their typical counterpart, but it is what is. And if Miss E is what slower firing neurons look like, well it's a shame the research can't capture her inherent beauty, along with her inseparable biology, too.
But yes, it is fascinating.
Maybe one day science will tell me why WonderGabe has such an inexplicable love and bizarre adoration of diaper wipes.
Ahhh...to dream the dream...
The student in me found it so, so interesting. The mama in me did get a little sad for the same reasons already mentioned. Plus, I think my princess is a genius and this stuff just rocks my world a little.
And the last time my daughter was a "patient" was at her 12m well baby checkup. I thought they did pretty well with the language (much better than what I hear on a daily basis), but that did jump out at me. Patient? Hmph.
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