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What’s up Bub?

Posted in Genetics, Scientific research by Matt at WelcometoIllinois on July 21, 2009

Scientists at the U.S. Department of Energy’s Lawrence Berkeley National Laboratory and the University of Tennessee, Knoxville think they may have come up with a solution to the problem of what causes chromosomal abnormalities such as Down’s syndrome.

According to ScienceBlog, researchers think it could be down to a gene called Bub1:

“Usually, both copies of a gene in a chromosome must carry the same mutation in order for an organism to be adversely effected.

‘But we found that a mutation in a single copy of the Bub1 gene can have an impact — and this is not the case with most genes. With Bub1, if you have one bad gene and one healthy gene, there’s a problem,’ says Francesco Marchetti of Berkeley Lab’s Life Sciences Division.”

ScienceBlog adds:

“It’s rare for humans to have mutations in both copies of a gene, while it is quite common to have a mutation in only one copy. Usually, the healthy gene overrides the mutated gene ?- but not in Bub1, at least in mice.”

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One Response

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  1. Illinois Mom said, on August 5, 2009 at 1:37 pm

    I’ve spent a lot of time hoping Down syndrome could be the new Spina Bifida/folic acid or CP and the prenatal steriod shots for at risk infants that are making great strides in reducing the incidents of that. I’m grateful that the medical community is looking for solutions, and hope it will be a simple cause and effect prevention. Short of that, I can’t imagine a solution coming any time soon.

    I’ve been spending the last few months battling breast cancer that remained hidden from all the latest medical technology for two years. Now I’m enduring a “cure” that is way worse than cancer ever was (other than that whole dying thing, of course.)

    What I do know is 1)the medical world has a lot more questions than answers, even for a disease that can potentially strike any one any time.

    2)Quality of life and happiness is definitely a state of mind not state of body.

    Thanks for providing an easy way to stay informed on such important topics.


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