Melbourne researchers discover heart attack gene link
Friday, 24 May, 2002
Australian researchers have determined three genetic loci which are linked to heart attacks.
Prof Stephen Harrap, who directed the study at the University of Melbourne, said that it was the first to focus exclusively on genetic links in heart attacks.
"We knew that factors such as high blood pressure, cholesterol and smoking predispose to heart attack, but the challenge was to find the genes that tip the balance," Harrap said.
"There has always been a gap in our knowledge of what causes heart attack and we can currently only attribute about half of heart attack cases to known risk factors. It is likely that the genes we are now researching underpin these mysterious mechanisms."
Harrap explained that the basis of the study was to screen admissions in coronary care units across eight Melbourne hospitals, looking for heart attack patients with siblings who had also suffered heart attacks.
Out of 6000 admissions, the study ended up with about 70 pairs of siblings. The team then performed a whole genome linkage study with the assistance of the Australian Genome Research Facility and found three loci strongly associated with heart attacks on chromosomes 2, 3 and 20.
Harrap said that the next step would be to determine exactly what genes were responsible. He believes that researchers will find the genes in the next two to three years, as there was a lot of interest in the area. A number of large studies are being performed overseas to look at genes involved in heart attacks.
"We are already looking at some candidate genes," Harrap said, adding that SNP analysis would be used to look at polymorphisms.
He explained that the strongest locus from the study was on chromosome 2 and contained a gene - the insulin receptor substrate 1 (IRS-1) gene - that had been implicated in heart attacks in a number of other studies.
Once genes have been identified, Harrap said that researchers could focus on understanding how they are involved in heart attacks and develop new methods for prevention and treatment.
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