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Identification of Genes Linked to Hypertension and Heart Attack Hypertension is commonly known as high blood pressure. It is a disease that affects around a billion people worldwide. Known to be a risk factor for heart disease, high blood pressure can cause kidney failure and stroke too Recently, scientists from the Massachusetts General Hospital's Centre for Human Genetic Research have identified the first common gene variants associated with an elevated risk of hypertension. Their paper was published on February 15, 2009 in the journal Nature Genetics The discovered variants are located on two genes called NPPA and NPPB controlling proteins that relax blood vessels and help the excretion of dietary sodium. The DNA of nearly 30,000 people was sifted through in order to look for telltale of single changes in genetic code in the NPPA and NPPB regions. What they found was 13 of these so-called single-nucleotide polymorphisms (SNPs), which despite a minute presence in the genome can actually have major and lasting impacts on how genes work. One SNP, found in almost 90 percent of the participants in the study, was linked to a reduction of 20 percent in one of the key proteins, and to an 18 percent increased risk of hypertension.
Hypertension can run in families. Though a few rare genetic syndromes that raise blood pressure have been identified, the common genetic basis for the type of hypertension that affects a billion individuals around the world has indeed been very difficult to establish. NPPA and NPPB play a role in producing so-called atrial and B-type natriuretic peptides. These proteins are produced by the heart when it is stressed. In fact, they are used as a diagnostic tool: high levels are an indicator of heart failure. The researchers believe many more genes are likely to be found that contribute to higher blood pressure, but their findings can already pave way for exploration for drugs to block the action of the faulty genes. In another paper relating to 5 studies published online on February 8, 2009 in the latest issue of the journal Nature Genetics, researchers have found genes that are linked to heart attack. After spanning 3 continents and carrying out the largest-ever trawl through human DNA, they identified 9 flawed genes that lead to inherited risks of a heart attack. In the research, the genome of tens of thousands of people with a history of heart disease was sifted through in order to get likely genetic candidates. The results were then matched against the genomes of 'controls' (otherwise healthy people) to get confirmation. Located in chromosomes 2, 3, 6, 12 and 21, the variants of genes raise the risk of myocardial infarction. The variants are single changes in the code between a healthy gene and a flawed one. These tiny differences can have rather big influence on the protein-making machinery that maintains the cardiovascular system. Such discovery is certainly good news for people at risk as this could open road for new medication to target inflammation by the immune system, adhesion between cells and other molecular mechanisms.
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