By Akhtar Ali
(Institute of Biochemistry and Biotechnology, UVAS,Lahore)
Heart diseases are the leading causes of death in the world and its frequency is increasing in the developing countries with every passing decade. About 17.3 million people die annually due to heart diseases in the world. An estimate indicates that by 2030,about 23.3 million people in the world will die with theheart diseases. In Pakistan, heart attack contributes about 23.7-26.9% and 30% deaths in women and men respectively of the totalcardiovascular events.Heart attack occurs mostly due to blockage of blood vessels (coronary arteries) supplying 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 found in the blood. Plaque formation is mainly depended on blood cholesterol contents. Raised level of LDL-cholesterol (low density lipoprotein) in the blood increases the chances of getting heart disease while HDL-cholesterol (high density lipoprotein) reduces the risk of disease. With the advent of genomics it has been now proved that genetic make (DNA) has a vital role on the blood cholesterol contents of a family. Keeping in view the importance of this aspect, researchwork is being carried out recently for genetic markers identification of hypercholesterolemia in the Pakistani families and the heart attack patients. This research work was done in the UVAS, Lahore with the collaboration of Center for Cardiovascular Genetics, University College London, United Kingdom (UK).Genes (positions on the DNA) responsible for high LDL-cholesterol (hypercholesterolemia) were screened and one novel change in the hereditary material (DNA) responsible for raised level of LDL-cholesterol was identified in one Pakistani family very first time in the world using latest scientific technologies and software. Individuals carrying this change arepredicted to be at high risk of heart attack. Remaining high cholesterol families with no detectable change in the DNA were further tested for six single nucleotide polymorphisms (SNPs). Pakistani hypercholesterolemia patients showed a significant difference in the DNA when comparing with the healthy Pakistani individuals. Similarly survivors of heart attackcollected from Pakistan were examined for marker panelof 19 SNPs and were compared with the normal Pakistani individuals. Genome based data of heart attack patients and normal individuals suggested that it is influenced by many factorsalongwithgenetics. Genetic contribution of commonly reported DNA changes should be investigated on a large scale population in heart attack patients.Thisstudy concludes that the genetic screening of clinically diagnosed patients of familial hypercholesterolemia in Pakistanwith 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).
Sep 28, 2016 0
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