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Down's syndrome theory shattered??

 
 
dlowan
 
Reply Fri 22 Oct, 2004 06:43 am
Fascinating research reported by the BBC:

(Full story here:
http://news.bbc.co.uk/2/hi/health/3760504.stm )


"Down's syndrome theory shattered


The work challenges previous beliefs.


Scientists believe they have disproved a 30-year-old notion of what causes Down's syndrome. A particular genetic region long assumed to be a critical factor in this condition is not as important as thought, says the Johns Hopkins team.

The US researchers studied mice engineered to have the 'culprit' genes believed to be responsible for causing Down's syndrome.

They told the journal Science that the cause was much more complicated.

Conflicting results

They believe Down's syndrome arises from an interplay of complex genetic and developmental factors.

In Down's Syndrome, an extra copy of one chromosome is inherited, giving a person three copies of chromosome 21 instead of the usual two. This is known as trisomy 21.

Previous studies have supported the idea that extra genes within a critical region of chromosome 21 could be the root of the problem.

Rare cases of Down's syndrome occur when only a segment of chromosome 21, and the genes housed within it, is triplicated.

But Dr Roger Reeves and his colleagues say this notion can be disproved by measuring Down's syndrome-like characteristics in mice that are genetically engineered to possess the suspect genes............."
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Letty
 
  1  
Reply Fri 22 Oct, 2004 09:54 am
Interesting, Deb. Remember when Down's Syndrome used to be referred to as Mongolian Idiot? My word.

I was also led to believe that having a child late in life increased the chances of Down's Syndrome.
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Portal Star
 
  1  
Reply Fri 22 Oct, 2004 12:01 pm
Letty wrote:
Interesting, Deb. Remember when Down's Syndrome used to be referred to as Mongolian Idiot? My word.

I was also led to believe that having a child late in life increased the chances of Down's Syndrome.


Actually, I'm pretty sure that it does.
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Letty
 
  1  
Reply Fri 22 Oct, 2004 12:17 pm
Hey, PS. Haven't seen you about in a bit. I think Deb may be all tucked into bed right now.

Them scientists keep changing their minds, no?
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shewolfnm
 
  1  
Reply Fri 22 Oct, 2004 12:28 pm
Letty wrote:


I was also led to believe that having a child late in life increased the chances of Down's Syndrome.


I have heard that too. Almost everytime I have encountered a DS child, that was the primary '''excuse/reason'' for the syndrome. But my thought..?
If that were true, COMPLETELY true.. wouldnt there be 100x's more cases of DS? I mean, women have children after 40 or later all the time.Right? Or are the statistics wrong?
I am sure there is truth to the statement, but in my mind it doesnt seem like much.
Though, again, I could be wrong...
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Letty
 
  1  
Reply Fri 22 Oct, 2004 12:51 pm
Well, shewolf, My parents were forty four when I was born. I think the odds are in favor of nature, but I don't know either. That's why I found this thread interesting. Maybe the thinking had to do with the defective quality of the ovum after a certain time.
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dlowan
 
  1  
Reply Fri 22 Oct, 2004 03:36 pm
Hmm - and I also opened a thread on older (over THIRTY!!) men having more chance of siring kids who develop schizophrenia.

Looks like having the li'l smeggers pretty early is better odds. Physically, at least.
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Portal Star
 
  1  
Reply Sun 24 Oct, 2004 09:04 pm
Hi Letty! My interest in posting waxes and wanes.

I'm in favor of having them early (but not too early!) because it's really difficult to care for kids when you're getting old and tired. Especially the kids I'm going to have, judging by the guys I date they'll most likely be roudy ADHD ceiling climbers.
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ossobuco
 
  1  
Reply Sun 24 Oct, 2004 10:30 pm
A pediatrician pal of mine mentioned once that she had read some paper on down's being affected my men's age - I can't remember if that was as much as women's age or more than, it's been twenty years since she told me that. (She did research at a big research hospital in Denver around that time..)
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patiodog
 
  1  
Reply Mon 25 Oct, 2004 08:18 am
Quote:
I was also led to believe that having a child late in life increased the chances of Down's Syndrome.


Quote:
A pediatrician pal of mine mentioned once that she had read some paper on down's being affected my men's age - I can't remember if that was as much as women's age or more than, it's been twenty years since she told me that.


Trisomies (duplications of chromosomes) occur when the chromosomes don't separate properly during meiosis. So far as I know, age is far more a consideration here for women than it is for men for the following reason: all or virtually all of the eggs that a woman will have are frozen at a stage of meiosis in which all the chromosomes are bound up together. Meiosis is not completed until the egg is fertilized. For a woman who conceives at 40, then, the chromosomes have been stuck together for twice as long as in a woman who conceives at 20. The thinking, then, is that there are more likely to be problems in separating them properly. This has been observed with other duplication-associated syndromes as well -- fragile X, for instance.

Sperm, on the other hand, are produced constantly. Granted, the cells from which they arise -- like all the cells of the body -- have undergone more divisions the older the man is, and so there may be a greater chance of mutations, but I don't know of any reason why the odds of a duplication would increase as the man ages.
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ossobuco
 
  1  
Reply Mon 25 Oct, 2004 11:41 am
I don't remember the reasoning at this point, Patio, am not sure I was told - just part of an old conversation, one of those snippets you just happen to remember. If there was truth to it, I would guess there'd be data for it now.
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patiodog
 
  1  
Reply Mon 25 Oct, 2004 11:54 am
Quote:
...just part of an old conversation, one of those snippets you just happen to remember.


I know what you mean -- that's why I try to be careful when I start sputtering about stuff - 'cause who really knows anything?
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