Spontaneous Mutations Important Cause of Mental Retardation, Research Finds

[HuckleB]

http://www.sciencedaily.com/releases/2010/11/101115074033.htm

"New research by Dutch geneticists affiliated with the Radboud University Nijmegen Medical Centre demonstrates that spontaneous mutations are an important cause of mental retardation. The majority of mental retardation is caused by spontaneous mutations in paternal sperm or maternal egg cells, the scientists say.

With this conclusion, the researchers have not only resolved an important paradox but have also caused a small revolution in the world of medical genetics. They present their work in the journal Nature Genetics.

...

The researchers read the genetic code of all 20.000 genes for 10 patients with mental retardation. A similar analysis was performed for their healthy parents. By comparing the genetic codes obtained, differences in genes between parents and child could be precisely determined.

For nine out of ten children, the researchers indeed found such changes, each time in a different gene. For three children, the change identified was irrelevant to their disorder. But more important, for the remaining six children, they found two changes that are definitely relevant to their disorder and the four other changes are most likely related to their disorder. Geneticist Joris Veltman: "Apparently, the mental retardation observed in six of these ten children can be explained by a novel genetic change, a de novo mutation. This is more than half of all - so far - unexplained mental retardation!"

..."

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Nice move forward, IMO.

:toast:

[truedelphi]

1. Thank you for posting. I want to point out

To the casual reader -- in Europe, the notation 20.000 is equal to our expression 20,000.

[SheilaT]

2. Interesting. Makes me wonder if

spontaneous mutations aren't responsible for a lot more than we realize.

It's understood that the hemophilia that Queen Victoria of England passed to one of her sons was a spontaneous mutation in her. It had not been in the royal families of Europe before. Two of her daughters were also carriers, but the disease thankfully died out in that line.

In a similar manner, both of my sons have an auto-immune disorder called alopecia areata. It causes hair loss. Both sons have the most extreme version, called universalis, which means they have not hair whatsoever: no eyebrows, eyelashes, beard, head hair, etc. No one in either family line ever had it that we know of, nor are any other auto-immune disorders known of. Maybe a spontaneous mutation?

Maybe at least some of the autism being diagnosed is a result of recent mutations. My oldest son has Asperger's, and while I could make various jokes about some of the relatives, we don't know of anyone who is related who has anything like that.

[madrchsod]

3. my wife works with adults who are retarded and/or autistic.

another spontaneous mutation was discovered and published last year in england.

both articles debunks the chelation quacks.

[HuckleB]

4. Indeed.

But then, what doesn't debunk the chelation quacks?

:toast: