Is Heart Failure a Thing of The Past?

Failure? What's that?

In the modern day some strokes and heart attacks are able to be treated with no lasting symptoms if treated withing 2-3 hours of the event, but there are still those events where treatment simply isn't enough to get people back on their feet. Whether you are put on a beta blocker, an Ace Inhibitor, or diuretics, the heart doesn't fully recover in some cases. This is where newly discovered gene therapy comes in. Researchers had previously found a gene that produces a protein called cardiac bridging integrator 1 (cBIN1) that is integral in allowing the heart to perform at full functionality. Hearts that are low on cBIN1 are found to have trouble contracting, and have a severe risk of heart problems. Recently tested on pigs was this protein embedded in a virus, being shot into the blood vessels of pigs with heart failure. These pigs, prior to the treatment, were expected to die withing the 6 month window of the period. In fact they were slated to die much sooner, within 2-3 months. All of the 4 pigs survived the research window and were found to have a 30% improvement in heart function. A far shout from the results of current treatments, which range from 5-10%. FDA approval is being applied for to obtain permission to test on humans, but it isn't expected to go through until 2025 at the earliest. 

I am excited for this to develop into later stages. As somebody who has a genetic heart condition, seeing that heart failure and it's aftereffects may become a thing of the past is greatly comforting. I can't wait to see where this research goes, and I will be personally following this subject. Once this protein is successfully implanted in humans, I'm hoping we can find an enzyme that helps control the gene expression and protein production, so we could possibly make a pill for people who are found to have cBIN1 deficiencies. 

Links

https://www.nature.com/articles/s41536-024-00380-0

https://www.nhs.uk/conditions/heart-failure/treatment/

Newly Discovered Genetic Links to High Blood Pressure

High blood pressure could lead to serious health risks including stroke, heart disease, heart failure, and heart attack.  It is one of the most common health ailments in the country with nearly 1 out of 3 adults that have this condition, but only half of those effected are actually treated.  Besides lack of exercise and poor diet, your genes also play a role in the risk of getting hypertension.  New studies were done by researchers who tested the genomes of hundreds of thousands of adult subjects, finding 107 genes linked to high blood pressure.  About 30 of those genes were newly discovered, while over 50 were validated from a previous study.  These findings bring hope to researchers that new medications can be produced targeting these newly discovered regions to prevent and treat patients at risk for high blood pressure and related, more severe illnesses.

I believe the findings of this research will benefit countless people since so many either suffer or are at risk of hypertension.  It would be really great to see new medications produced soon, considering I know friends and relatives who are at risk with their heart health.

Heart Failure: A Result of a Faulty Gene

Researchers at Imperial College London have discovered 1% of of people carry faulty versions of a gene that can lead to heart failure. The gene itself codes for a protein called titin, which can trigger heart failure if the organ comes under stress. The gene variants for the titin protein causes a heart condition known as dilated cardiomyopathy. According to Dr. Stuart Cook, a professor of clinical and molecular cardiology, dilated cardiomyopathy is where the heart enlarges, thus stretching and thinning the muscle. This eventually impair's the organ's ability to pump blood and oxygen around the body.

By doing a study on healthy rats with the faulty genes, researchers have discovered that the animals appeared healthy, but still contained the abnormal stress on the hearts, in which could trigger dilated cardiomyopathy. By doing a comparison on adults through MRI scans, analysts indeed found that 1% of the tested adults carried the titin gene variants. Surprisingly enough, the adults that carried the gene looked completely healthy.   

On a closer analysis through 3-D heart models of the carriers, researchers indeed detected a slightly enlarged heart in comparison to those without the gene variants. In addition, the pattern detected in gene variant carriers were shown to be similar in heart failure patients. Scientists also concluded that those with the titin gene variants may have silenced genes in which may not cause dilated cardiomyopathy directly but can still be triggered indirectly though genetic stress. If the results holds true for beyond the tested patients, patients who appear healthy may be in danger of not realizing that they carry the gene variant that causes dilated cardiomyopathy. With this research in mind, this can be very useful for genetic researchers in comparing other genetic mutations that act similar to the litin gene. By targeting the specific gene that may cause the disease, drugs can be made to silence the gene or altered to prevent the mutation from triggering the heart condition. Hopefully, these results can serve as the foundation for advancements in genetic analysis for conditions that are caused by genetic mutations.  

Heart failure: Faulty gene carried by 1 percent of people

Researchers from the United Kingdom, Singapore, and Germany the conclusion that a faulty gene carried by approximately 75 million people worldwide will most likely cause heart failure . The heart failure is triggered by abnormal amount of stress, such as pregnancy, viral infections, or high blood pressure.


The gene is supposed to code for a protein called titin. In the case of 1% of people, the gene produces a mutated version of the protein, what researchers are calling titin-truncating variants. Researchers began studying the protein in rats as well as humans. When the researchers began studying healthy rats with the faulty genes, they found that while the animals appeared healthy, putting abnormal stress on their hearts triggered dilated cardiomyopathy.

Researchers also studied 1400 adults. Genetic analysis showed that 14 of the 1400, exactly 1%, had the titin gene variants. As well as having the titin gene variants, 14 people had abnormally large hearts, in particular the main pumping chamber, when compared to the rest of the group.

http://www.medicalnewstoday.com/articles/314265.php
http://www.med-health.net/Heart-Failure-Stages.html

Researchers identify genetic marker for heart failure

A team of scientists at The University of Texas Health Science Center at Houston has identified powerful predictors of congestive heart failure. This is major cause of hospitalization and death in the United States with approximately 5.7 million adults affected in 2016. They analyzed how gene mutations affect circulating metabolites in the human body.

A mutated gene, SLCO1B1, was found to be associated with high levels of blood fatty acid, which is a strong predictor for the development of future heart failure and the mutation itself has a direct effect on heart failure risk. A major risk factor of heart failure is high blood pressure, or hypertension, which is more common among African-Americans. While the finding was made in a population of African-American participants, the researchers were able to confirm the relationship among European Americans as well.

Because of the aging population, the estimated prevalence and cost of care for heart failure is expected to increase dramatically. By 2030, it's estimated that more than 8 million people in the United States will have heart failure with $70 billion total costs, according to the American Heart Association.

Gene Therapy Being Studied as an Alternative to Heart Transplants

British scientists have started a trial to investigate if gene therapy can potentially take the place of heart transplants.

This study is unique because it is the first to research the use of gene therapy for heart patients kept alive by a LVAD. An LVAD is a left ventricular assist device. This device helps patients’ bodies pump blood while their hearts are not working properly.

A group of sixteen randomly selected patients will be treated with a gene that will help their hearts beat more strongly and closer to a healthy heart. Another group of eight other individuals will act as the control group and receive placebo therapy.

The therapy itself involves isolating a harmless altered virus and injecting it into the blood stream. This nonpathogenic virus will transport the new gene to the heart, where heart muscle cells may access it. This will hopefully elevate levels of a protein called SERCA2a, which is vital to the contraction of cardiac muscle.

Heart muscle will be taken and biopsied six months post-treatment to see if the gene is in fact present and functioning properly.

Since this treatment is not focused on correcting a gene defect, it is applicable in many different cases. Whether heart failure is caused by genetics, environmental factors, or lifestyle, this therapy will be equally beneficial. This is in contrast to many other gene therapies that focus only on correcting a specific mutant or defective gene.

This article was interesting to read mainly because of the versatility of this treatment. The fact that the researchers have developed a therapy that could treat such a wide variety of causes of heart failure is fascinating. I’ve never read about a blanket-type genetic treatment like this before. As with many gene therapy trials, this could offer hope to many people who are living with heart failure. Especially because the list for transplants is so long, and many people will pass away waiting for their chance. This treatment could be revolutionary.

Article: http://www.theguardian.com/society/2014/aug/11/gene-therapy-trial-heart-transplants

Related Article: http://www.sciencedaily.com/releases/2014/08/140811124539.htm

Novel Gene Therapy Works to Reverse Heart Failure

A new study that was published in Science Translational Medicine has said that a new gene therapy to treat heart failure is now in its final stage before it will start human clinical trails. This gene therapy will be used to treat heart failure in patients by shrinking their enlarged hearts and improving heart function. The patients that would find this treatment to be beneficial would be those individuals missing SUMO-1 gene. Dr. Hajjar is the main researcher for this type of treatment and has already has developed a gene therapy for the heart which targets gene SERCA2. The trials for this therapy are in its final stages and so far the results have been positive. The SERCA2 gene is delivered to the heart in a virus which is administered through the coronary arteries by heart catheterization. SERCA2 is responsible for producing an enzyme that helps pump calcium out of cells It has been found that only one dose is needed to restore proper enzyme levels.

 This is exciting news for the cardiovascular community because heart failure contributes to over 300,000 deaths a year. Gene therapy works by introducing new genetic material to abnormal cells. In this case SUMA-1 patients are missing this gene and by introducing it to the cell. SUMA-1 is responsible for regulating SERCA2's activity. It is believed that a combination of these two gene therapies would significantly improve blood flow, reduced heart volumes and produce stronger contractions. This is why researchers are going to explore the possibility of combining these two types of gene therapy. 

                                Coronary arteries of the failing heart delivering SUMO1

Link:

http://www.sciencedaily.com/releases/2013/11/131113143131.htm

Related links:

http://www.mountsinai.org/about-us/newsroom/press-releases/novel-gene-therapy-works-to-reverse-heart-failure

http://www.globaltimes.cn/content/825075.shtml#.Uo-Ds9KsiSo

Novel Gene Therapy Reverses Heart Disease in Animals

  

Science has found a way to fight heart disease and are taking the step towards clinical trials. Since heart failure results from the heart weakening and enlarging, scientists have decided to try to use gene therapy to shrink the heart, thus improving blood flow. Pigs that were infused with a gene called SUMO-1 showed remarkable improvement. The SUMO-1 was designed to regulate the calcium in the ventircle cells, and despite not fully knowing what causes the heart to grow big, this has proven to reverse the problem.

Any matter of the heart is dangerous territory, and this research may make it that much safer. If a person needs a heart transplant, this gene therapy could help them last long enough to get it. This isn't just for humans either. Animals can benefit from this research as well and heart disease in all species can be better controlled.

Article: http://www.voanews.com/content/novel-gene-therapy-reverses-heart-disease-in-animals/1790513.html

Further Reading: http://stm.sciencemag.org/content/5/211/211ra159.abstract?sid=10928b6a-a44c-4d5f-8951-837edc879d8e

Cardiopoietic 'Smart' Stem Cells Show Promise in Heart Failure Patients

Heart failure, C-CURE, trails involved patients from Belgium, Switzerland and Serbia. Patients in the control group were given standard heart failure treatments and patients in the experimental group were given cardiopietic stem cells along with the standard treatment. Isolated stem cells taken from the patient’s harvested bone marrow were treated with a protein cocktail to replicate the natural process of heart development and injected into the patient’s heart. Researchers developed the protein cocktail by identifying the proteins necessary to help a stem cell become a reparative cell from the hundreds of proteins involved in the heart development process.

Within six months of the stem cell treatment, every patient in the experimental group improved significantly in comparison to the control group patients. The experimental group had a seven percent absolute improvement in ejection fraction (EF) over baseline. Heart pumping function improved, patients also had improved fitness and were able to walk longer distances compared to before treatment. This discovery paves a way for the regenerative medicine solutions.



http://www.sciencedaily.com/releases/2013/04/130410103349.htm

Environment and diet can leave "marks" on your heart for life

In a recent article, scientists have discovered that your environment and diet can affect your heart in more ways than one. The study started as an investigation to understand the DNA methylation of the heart and what the researchers found was remarkable.  The head scientists of this research was Roger Foo from  University of Cambridge, who discovered that scanning the whole genome in detail provided a better understanding of how genetics related to heart failure.  The study started as comparing people with end-stage cardiomyopathy, so bad that they had to have a heart transplant, with the healthy hearts that they were receiving. The scientists noticed that there was a difference in the "marks" that the genome presents on the diseased heart and the healthy heart. These "marks" were due to the difference in DNA methylation which is strongly influenced by external factors, which are factors that are not within the body, like your environment and diet.  Since, DNA methylation does not stop and continues throughout our lives in response to environmental changes and changes in diet and this could now be a link to heart disease. This study also revealed that there could be up to 8 other nucleotides in the DNA because of methylation. This was an important study and opens a new idea for science and new studies.