Heart diseases are leading cause of death and its frequency is increasing. Heart attack occurs mostly due to blockage of blood vessels which supply blood to the heart. These arteries are blocked due to formation of a plaque which reduces the blood passage. Plaque is composed of cholesterol, fat, calcium and other residual contents in the blood. With the advent of genomics it has been now proved that genetic make (DNA) has a vital role on cholesterol contents of a family. Research work is being carried out for genetic markers identification of hypercholesterolemia in families and patients who have had a heart attack. This research work was done in the UVAS, Lahore with the collaboration of Center for Cardiovascular Genetics, University College London, United Kingdom.

Genes responsible for high LDL-cholesterol were screened and a novel change in the hereditary material, responsible for raised level of LDL-cholesterol, was identified in one family for the first time, using latest scientific technology and software. Individuals carrying this change are predicted to be at high risk of heart attack. Genetic contribution of commonly reported DNA changes should be investigated on a large scale population in heart attack patients. This study concludes that the genetic screening of clinically diagnosed patients of familial hypercholesterolemia in Pakistan, with no detectable disease, causing variations in known genes should be tested for a polygenic cause. These findings suggest that the set of these six DNA variants (6SNPs) can be used as marker to assess the risk of familial hypercholesterolemia and heart attack at an early age in Pakistani community. This research work was sponsored by the Higher Education Commission (Pakistan) and British Heart Foundation (UK).


Lahore, April 14.