Genetic research unearths vital links

American Researchers from the Ohio State University Medical Center have developed a gene therapy for preventing amputation in limb ischemia. Amputation is undertaken due to poor blood circulation. In Phase I clinical trial, the researchers tested the safety of treating the limbs with study drug, Ad2/HIF-1a/VP16. This drug is a modified form of the hypoxia-inducible factor-1 alpha (HIF-1a) gene, the gene that stimulates the growth of blood vessels, normalize oxygen levels and thus help the tissue to survive. In the trial, the therapy completely eliminated pain in around 50 per cent of the patients while it healed ulcers in more than 25 per cent of the patients. Phase II clinical trials are currently underway.

Meanwhile, researchers from the Washington University School of Medicine, US, have compiled evidence that links gene CHRM2 to intelligence quotient (IQ). The psychiatrists found that this gene stimulates certain signaling pathways that influence performance IQ. Also, certain changes in the gene correspond to the differences found in visual-motor coordination and other such skills. However, the researchers stress that this gene does not decided whether an individual will be a genius or not.

In another study, researchers from the Yale School of Medicine are on the brink of linking a cancer gene LRP6 to heart and bone disease. While studying 58 members of the same family, they saw that those with mutations in the LRP6 gene also suffered from high levels of LDL cholesterol, blood pressure and triglycerides. They also noticed that a significant number of members had osteoporosis. The researchers believe that their findings are a first step in finding a genetic connection between deteriorating bones and heart disease.

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