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70 years old and going strong with Down syndrome and no dementia
Date:9/9/2008

own syndrome over 75 years of age have found that they usually do not have typical Down syndrome, which 'Mr. C' does. That is, these previous cases did not have three complete copies of Chromosome 21 throughout all the cells in their bodies, but had an atypical Down syndrome genotype, explaining why they may have been less severely affected and why they had a higher life expectancy. However, 'Mr. C' is aging successfully despite having complete Trisomy 21, making this the first case of its kind reported in scientific literature.

"The understanding in the field [until] very recently was that if you had Down syndrome and were lucky enough to make it to 70 years of age, then you would have to have Alzheimer's disease," explains Wayne Silverman, the study's co-author and Director of Intellectual Disabilities Research at the Kennedy Krieger Institute in Baltimore. "But now, we have 'Mr. C', who clearly contradicts this longstanding assumption and offers a new benchmark and tremendous hope for all people with Down Syndrome to live longer and healthier lives."

The processes regulating aging and dementia are complex and it is unlikely that any single mechanism can fully explain the array of changes that occur with aging. While future research could take several directions, including studies of risk factors like cholesterol or the bio availability of estrogen, Silverman explains that the area of gene expression offers promise at this time. While an extra copy of Chromosome 21 in a person causes an overabundance of some proteins, one possible explanation for 'Mr. C''s successful aging and increased life expectancy is that, for one reason or another, he does not actually have an overexpression of all the genetic material that comes along with his extra copy of Chromosome 21.


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Contact: Anu Prabhala
annap@aaidd.org
202-387-1968
American Association on Intellectual and Developmental Disabilities
Source:Eurekalert

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