Down Syndrome and the Link to Alzheimer's

by Maureen E. Hook, Ph.D.

October 25, 2013

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The latest medical research is showing a link between the condition known as Down Syndrome and the development of Alzheimer’s disease. Already scientists know there is a high incidence of Alzheimer’s disease in people with Down Syndrome. By age 40, 40 percent of individuals with Down Syndrome develop Alzheimer’s. By age 50, the percentage increases to 50 percent with Alzheimer’s. Why is this so? Scientists are not sure, but they have noticed that all people with Down Syndrome develop the plaques that cause Alzheimer’s, and they begin to do so at a early age. However, what intrigues them, is why 50 percent of the Down Syndrome population DON’T develop the disease., even though they possess some of those troublesome plaques. Plaque is a sticky protein called amyloid-beta that covers nerve cells and inhibits the brain’s functioning.
Perhaps the answer lies in the fact that both Down Syndrome and Alzheimer’s have a related genetic component. People with Down Syndrome have an extra 21st chromosome, and plaques develop from a precursor protein for amyloid-beta which is configured on the 21st chromosome, according to Dr. Cindy Lemere, an associate professor of neurology at Harvard Medical School and Brigham and Women’s Hospital. With this knowledge, some scientists like Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital in Boston, have begun experimental studies investigating the treatment of individuals with Down Syndrome with certain drug therapies. Dr. Skotko is currently using the drug, scyllo-inositol developed by the Elan Corporation, to see if plaque formation can be blocked while  other cells in the body are fortified. A possible side effect of the treatment may be enhancement of intellectual functioning. If plaque formation can be stopped or showed, the theory is that individuals with Down Syndrome may be able to function at higher levels. Those results should be available in the near future. In the meantime, he has lots of willing subjects who want to participate in his research.
Others are conflicted about this new possibility, One such person is Andy Majewski, whose son, Ben, has Down Syndrome and works at the Down Syndrome Program at Massachusetts General. The family considers Ben perfect, “so we don’t look for any changes in him. But the prospect of Alzheimer’s makes you think a bit more about, if there’s a potential cure, and this can unlock the code to Alzheimer’s, we have to think about it a little more carefully.” Of course, they will involve Ben in the decision. Their family is still considering what to do. It’s at least nice that now there may be options.
ask kitkat logoOther Cat Tidbits
Hook Law Center: Kit Kat, are all calico cats female, and are all kittens born with blue eyes?
Kit Kat: Well, these are some terrific questions! As to the first, you know what happens when people talk in absolutes, they’re usually not correct. So it’s the same with the “all calico cats are female” statement. It is true that MOST calico cats are female, but not ALL. About 1 in 3,000 is male, so I’m not surprised that this bit of folklore came about. A genetic variation called Klinefelter syndrome is responsible. What happens is that calico males possess the normal X and Y chromosomes, but they have an extra X chromosome which permits the calico colors to emerge. Neat, isn’t it?
As to the 2nd question about blue eyes–yes, kittens, like people, are all born with blue eyes. This happens because, when both these species are born, they lack melanin, which determines eye color. As both species are exposed to light, their irises start to mature, and the color changes. There is a surprising variety in cat eye color. You probably have seen it yourself, if you’ve been around cats for any length of time. Some cats even have 2 different colors in their eyes, just like you occasionally stumble across some people with the same condition. It certainly makes life interesting. Also, it helps to further differentiate us cats from one another. It adds another dimension to our look, besides coat color. That can be useful, because we can’t talk and identify ourselves. But most of all, we love being unique!
(http://shine.yahoo.com/pets/5-things-never-knew-cats-155000145.html) (9-4-2013)
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