Could having Down syndrome cause other health problems?

Down syndrome is a condition where a human has 47 chromosomes instead of the normal number of 46. This usually occurs with a duplication of chromosome 21 and causes a well-known birth defect. Although people with Down syndrome function in a different way to those without the extra chromosome in some ways, their general wellness has the potential to be good. There are, however, other health concerns associated with the condition Down syndrome and these have been explored in a recent study, led by a team of researchers from UC Irvine.


The associate professor of behaviour and Neurobiology, Jorge Busciglio, and his team looked at the molecular mechanisms in individuals with Down syndrome to try to find out the neural factors that lead to some individuals with the syndrome being more susceptible to diabetes, autistic spectrum disorders and Alzheimer’s disease.


It was found that the wellbeing of those with Down syndrome was affected by a breakdown in energy metabolism inside brain cells, which made them much more likely to fall victim to these other conditions. It was shown that as many as 25 percent of people over the age of 35 are showing signs of the type of dementia associated with Alzheimer’s disease. This is around three to five times higher than the incidences of Alzheimer’s in the general population.


The groundbreaking study has been published in the January 2012 issue of Cell Metabolism and was supported by a team of researchers from the National Institues of Health and the Larry L. Hillblom Foundation.

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