Newly Found Gene Mutations May Aid Heart Treatments

November 12, 2012

Newly Found Gene Mutations May Aid Heart Treatments

New genetic variants related to high blood pressure, stroke and heart disease have recently been discovered by scientists from the Institute of Genetic Medicine at Johns Hopkins. The recently discovered 29 DNA sequence variants add to the already discovered 300 or so genes related to cardiovascular diseases. The researchers believe that the new research will lead to new treatments for stroke and cardiovascular disease. The study was published in the journal Nature.

A John HopkinĀ’s news release authored by Aravinda Chakravarti, a professor of medicine, pediatrics and molecular biology and genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins and one of the researchers explained that, “A genetic risk score that adds up the effects of all of these variants shows that the more of these variants an individual has, the greater are his or her chances of having hypertension [high blood pressure], left ventricular wall thickness, stroke and coronary artery disease”.

The study involved the systolic and diastolic blood pressure levels being analyzed by the researchers in addition to genetic data being assessed from more than 200,000 people globally. The systolic and diastolic pressures indicate the maximum and minimum pressure that is exerted on the arteries.

It was found that common changes to DNA linked to hypertension in Africans and Asians were also present in Europeans.

The same researchers were involved in another study in which changes to the genome related to hypertension were identified. The genome, which is often known as the genetic footprint, was seen to have six additional changes to its make-up. These changes were identified after the researchers focused on two different methods of measuring pressure. First pulse pressure was investigated. Pulse pressure is the difference between systolic and diastolic blood pressures. Mean arterial pressure was then addressed, this is a weighted average of systolic and diastolic pressure.

Chakravarti uses the analogy, “It’s like using four different cops to find the same culprit”. He then adds, “The more ways we search for blood pressure genes, the better our ability to understand hypertension, whose effects are not uni-causal”.

The researchers believe that their work in identifying new gene variations may lead to novel treatment methods for patients with heart disease at some time in the future.

The researchers acknowledge lifestyle influences on blood pressure but say, “your blood pressure is a function of these genes we have just identified, as well as perhaps a hundred others we haven’t found yet. They explain that by identifying and breaking down the genetic architecture of blood pressure will increase our understanding of the biology of cardiovascular diseases and stroke”. They conclude by saying that it is their wish that hopefully, in the future, their work may lead to enhanced treatments.


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