Genetic variation may lead to early cardiovascul...(tion on whom CAD has a significant long-...)

Date:1/2/2009

tion on whom CAD has a significant long-term impact, but they are particularly hard to identify and therefore to initiate preventive therapies for," Shah said. "These and other genetic findings may help us in the future to identify these patients prior to development of CAD or their first heart attack."

The group further examined NPY levels in blood and found that, among the six NPY variants, there is a single-nucleotide change of the DNA code on the NPY promoter region of the gene the part of the gene that turns it on and off. This single-letter change was associated with higher NPY levels, suggesting that this was the functional change that predisposes a person to early onset CAD.

"If you had 1 or 2 copies of this mutant version of the gene, there could be a change in NPY level," Shah said. "The concept is that small changes over time can promote atherosclerosis (hardening of the arteries) at a very young age."

Mouse studies subsequently confirmed that the NPY pathway promotes atherosclerosis. The next step may be to examine the children of the people who were studied. Studying the heterogeneity among individuals with early-onset disease overweight versus normal weight families, for example will also be important.

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Contact: Mary Jane Gore mary.gore@duke.edu 919-660-1309 Public Library of Science Source:Eurekalert

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