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Monday, December 01, 2003Interest in the Iowa family began when one of its members, a 61-year-old man who suffered a heart attack, told doctors that eight of his 10 siblings also had heart attacks at about the same age. Doctors eventually traced 26 close family members with heart problems. The researchers took blood samples for DNA analysis in the hope of finding a common genetic link to the disorder. The study found that a region of chromosome 15 - one of the 23 pairs of chromosomes in the human genome - contained a linkage 'hotspot' that was known from previous studies to include a gene called MEF2A. The gene is involved in the repair and maintenance of artery walls and the research team found that the family members who had suffered heart attacks also possessed a deletion mutation within the MEF2A gene. None of their relatives, or 119 other, unrelated individuals without heart problems, possessed the same defect. This suggested that the defect causes the build-up of fatty deposits inside the vital arteries supplying nutrients to the heart. And what is to be gained from this information? Dr Topol said the immediate benefit would be to develop a test that could identify people within the same family who are carrying the defective gene. 'There are 100 members of this family. We can tell now in kids aged 10 whether they have the heart attack gene or not.' Other factors, such as smoking, increase the chances of an earlier heart attack for those people carrying the defect but the total avoidance of an attack is not possible, he said. "We're not talking about an increased risk. If you're not run over by a truck or get another disease first, you're going to have a heart attack," he said. Lucky kids. They'll get to spend their whole lives expecting their unavoidable heart attack at sixty - unless a treatment for the genetic defect is discovered. Will they be more likely to smoke and indulge in other heart-damaging activity because the inevitable is unavoidable? Will they check in for their cardiac cath and cornary artery intervention in their early fifties to avoid the ineveitable at sixty? Will it do any good to intervene early? Or will they end up with restenosis since they're genetically unable to repair their artery walls? It's a conundrum. posted by Sydney on 12/01/2003 07:50:00 AM 0 comments 0 Comments: |
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