People who have not and can not be heart disease? Is there on our planet are the lucky ones? It turns out there. Moreover, they can bring happiness to all mankind! If you carry a genetic mutation that protects you from all the heart diseases, you can even go on the offensive on heart attack, high blood pressure, stroke and other threats to our life. But how?
About this in his long article in “the new York times” said Gina Kolata, one of the most brilliant medical writers in American journalism.
As a result of experiments conducted by doctors and published in lnah, scientists have discovered two rare genetic mutations that reduce levels of triglycerides, a kind of blood fat far below normal. People who carry such genes, almost inaccessible heart disease, even if they have other risk factors.
Scientists had an idea — what if to create a drug that replicates the effect of these mutations? Start of production of these drugs has already been established. Many experts believe that there will come a day when these funds will become the next step in heart treatment.
Hundreds of millions of people on the globe have elevated levels of triglycerides. Genetic experiments confirmed their direct connection with heart diseases. If new drugs to join the Arsenal of drugs that reduce cholesterol in our blood and blood pressure, then, says Professor of vascular medicine University of Amsterdam Dr. John Kastelein, “we will hammer the last nail in the coffin of heart disease”.
The production of new drugs is, again, in the first stage of their creation. but has already begun testing on humans. Now the optimism of researchers is rooted not so much clinical information, but in the fact that nature itself shows the strength of the impact of these mutations in man.
An example is the fate of Anne Feurer. In 1994, 40-year-old Mrs. Feurer visited the health Expo, organized by her superiors in the face of Purina Ralston in St. Louis. She rolled the sleeves, and the nurse took her blood for the study of cholesterol. Later she called the doctor and reported that the triglyceride level in her blood “extremely” low. It was the LDL (low density lipoprotein, LDL), which increases the possibility of heart disease, and HDL (high-density lipoprotein) associated with reduced risk. The test results were so extraordinary that the doctor advised Anna Feurer to see a specialist.
“It was an accident,” recalls Mrs. Feurer in a newspaper interview. So her blood taken at the study, pointed the way to future treatment of heart disease. “Simply amazing!” — she exclaimed.
Anna Feurer addressed to Dr. Gustav Schonfeld, Washington University of St. Louis. He asked her relatives to take part in the experiment. She agreed and brought along with him his immediate family and even some cousins and brothers.
Some of them had remarkably low triglyceride level, his other levels were normal. For several years Dr. Schonfield was looking for the gene “responsible” for it, but never found. (Dr. Schonfield died in 2011.)
In 2009, he sent a DNA Feurer the doctor-the cardiologist Sekar Kathiresan at the Massachusetts General hospital, which found that Feurer wore in both copies of the gene ANGPTL3, taking an active part in the metabolism of triglyceride. (Each person carries two copies of this gene, one from their parents.)
As it turned out in the course of the study, three of nine brothers and sisters of Mrs. Feurer also had working copies of the gene, and the level of triglyceride was so low that resembled a nonfunctioning gene.
“The question was whether reduces coronary risk has lost its function a mutation?” says Dr. Daniel Rader of the University of Pennsylvania, author of one of three on published research.
Another cardiologist, Dr. Nathan Stitziel from Washington University (St. Louis), says that experiments show mutations of Mrs. Feurer looks protected.
Dr. Stitzel and his colleagues were scanning the coronary arteries Feurer Anne and her family, who also had the mutated genes ANGPTL3. Each of them was free of plaques. The researchers reported in the journal of the American College of cardiology.
One of the brothers of Anna was a desperate smoker, suffered from high blood pressure and even diabetes of the 2nd type, which is also threatened his heart. But his arteries had no plaque.
Dr. Stitzel led a group of international researchers who were busy with the search of a mutation that destroyed the gene in 180180. It was a rare phenomenon, occurring in 1 out of 309 people. But Dr. Stitzel with colleagues discovered a mutation that reduces the risk of heart attacks by a third.
The second direction for drug development, followed the line of study conducted in Lancaster. About 5% of the subjects had arteries that are not contaminated with platelets and low levels of triglycerides.
Those lucky enough to have inherited a single mutated copy of another gene, called ApoC3. Scientists are passionately looking for people who inherited two mutated copies, to ensure the security of closed short genes.
Then scientists began to look for the information about hepatitis collected at least 200,000 people around the world. But this is not studied. Then they tried to get his focusing his attention on heart patients in Pakistan, where frequent marriages between cousins and sisters, and therefore, the necessary mutations are detected easier.
This strategy has had success. “Combed” the useless the entire globe, the researchers found in Pakistan more than a hundred people who had a mutation in both genes ApoC3. These people were perfectly healthy with a low level of triglycerides. This was written in the April issue of the journal “Nature”.
Now with amazing speed, a pharmaceutical company, began testing experimental drugs that stimulate ApoC3 loss by blocking the protein ApoC3.
In addition, the two companies are now testing drugs based on the mutations in the same gene, which was found in the family of Mrs. Feurer. This was reported in the “Journal of medicine New England”, published recently.
Both companies report that in preliminary experiments, the drugs based on the mutations that reduce the presence of triglycerides in the people that they were in a very heightened state.
“Final base line is that these reductions in triglycerides is highly unprecedented,” writes the President of one of the pharmaceutical companies George Yancopoulos. But it is not yet clear to what extent it will prevent heart attacks.
Perhaps even more significant is the way in which these drugs were identified. Search for people who are not susceptible to heart disease, could open the door to the entire population of the planet this genetic good fortune.
“This is major progress, says Dr. Kriston Mitchell, Ballentine, chief of cardiology research at Baylor College of medicine. — This does not mean easy advance. But we have a new approach to developing drugs.”