New genes linked to heart disease and heart attack risk

Scientists have identified two genes which could increase your risk of heart disease and heart attack, according to new research published in The Lancet. The researchers identified a piece of genetic code which increases your risk of heart disease developing. They also found that another gene which determines your blood group was also associated with an increased risk of a heart attack in people who already had heart disease

Scots' cholesterol research could be life-saver

Scottish scientists have discovered new genes linked to high cholesterol, paving the way for tests to predict a person's risk of heart disease. An international team of researchers, including experts at Edinburgh University, studied the genetic make-up of more than 100,000 volunteers to help to pinpoint genes which might have an impact on cholesterol levels. The scientists said the study showed for the first time that it was possible to predict who was likely to develop high cholesterol using a genetic blood test - Scotsman

Gene therapy boosts recovery from heart attack (UK)

Gene therapy could be an effective way to improve survival rates among heart attack patients, new research funded by the British Heart Foundation suggests. Academics at the University of Bristol found that boosting levels of a natural growth factor in the heart could help the muscle to recover after a heart attack. The death rate from a heart attack was halved in mice that received the treatment. Heart attacks occur when a blood clot blocks off the blood supply to part of the heart muscle. Deprived of oxygen, the tissue dies and cannot regenerate. If the person survives, they can be left with a weakened heart that can't pump blood as effectively - causing severe ill health. Each year, around 140,000 people suffer a heart attack in the UK. Nerve growth factor (NGF) is so called because it promotes the growth of nerve cells, but Dr Costanza Emanueli, a BHF Senior Research Fellow, previously showed that it could also stimulate the growth of new blood vessels. In a new study published in the journal Circulation Research, Dr Emanueli and her team in Bristol investigated whether NGF could help the heart recover from a heart attack by encouraging new blood vessels to grow into and nourish the injured muscle

Heart failure missing link discovered? (UK)

British scientists say diseased hearts have DNA "marks" not found on healthy hearts. Lead author Dr. Roger Foo of the University of Cambridge in England said the marks - known as DNA methylation - are crucial in normal development allowing different cells to become different tissues despite having the same genes. The cells continue to occur throughout life in response to environmental changes. "DNA methylation leaves 'marks' on the genome, and there is already good evidence that these marks are strongly influenced by environment and diet," Foo said in a statement. "Linking all these things together suggests this may be the 'missing link' between environmental factors and heart failure." - UPI

In early heart development, genes work in tandem

Studying genes that regulate early heart development in animals, scientists have solved a puzzle about one gene's role, finding that it acts in concert with a related gene. Their finding contributes to understanding how the earliest stages of heart development may go awry, resulting in congenital heart defects in humans. Peter J. Gruber, M.D., Ph.D., a cardiothoracic surgeon at The Children's Hospital of Philadelphia, led a study published this week in the January 15 issue of the Journal of Biological Chemistry. Occurring in approximately 1 in 200 children, congenital heart defects represent the most common human birth defect - ScienceDaily

Contributors to heart failure identified (USA)

"U.S. researchers have pinpointed a dozen genetic variants in a single gene linked to heart failure. The team at Washington University School of Medicine in St. Louis analyzed the DNA of a large group of white patients with heart failure, and identified 129 variants in four genes that could be connected with heart failure. Further analysis of 1,117 whites with heart failure and 625 healthy whites led the researchers to identify 12 variants on the HSPB7 gene that are associated with heart failure. Confirmation of this association was achieved by analysis of an independent group of patients, the study authors noted. For this study, published December 14 in the Journal of Clinical Investigation, the researchers used a technique they recently developed that allows targeted DNA sequencing. They plan to use this same approach to pinpoint additional genetic variants associated with heart failure, a disease influenced by multiple genetic factors." - HealthDay

Genetic link found between vitamin D and congestive heart failure (USA)

A variant of the gene responsible for the activation of vitamin D is associated with the development of congestive heart failure in individuals with hypertension, new research shows. The results confirm previous studies suggesting that vitamin D is an important player in cardiovascular health, according to researchers. "There is a great deal of information out there now about vitamin D and how important it is for cardiovascular health," said senior investigator Dr Robert Simpson (University of Michigan, Ann Arbor, MI). "My lab was the first to study it in animals back in the early 1980s. We became interested because of information that the vitamin-D receptor existed in heart tissue. Subsequently, there have now been a number of clinical studies showing the importance of adequate vitamin-D status for human heart health." The results of the study are published in the November 2009 issue of Pharmacogenomics - Theheart.org

Side effects in statin users linked to gene mutation (USA)

"U.S. researchers have identified a common gene mutation linked to side effects in people taking cholesterol-lowering statin drugs. Statins can reduce high cholesterol and lower the risk of heart attack or stroke. But 25 percent to 50 percent of people prescribed the potentially lifesaving drugs stop taking them after a year because of side effects, in particular muscle aches. The study included 509 people taking one of three types of statins: atorvastatin (Lipitor), simvastatin (Zocor) or pravastatin (Pravachol). The patients took the drugs for an initial period of eight weeks and then had their doses increased for an additional eight weeks. The Duke University Medical Center researchers found that people with the common mutation in the SLCO1B1 gene were more likely to have muscle aches. The more copies of the mutation, the greater their risk. The study also found that the muscle side effects differed depending on the type of statin. People taking simvastatin reported the most side effects while those taking pravastatin had the least muscle aches. The findings, published online October 12 in the Journal of the American College of Cardiology, may help doctors increase the number of patients who keep taking the drugs." - HealthDay

Genes not destiny when it comes to heart disease (Canada)

When it comes to heart disease, lifestyle usually trumps genetics, says noted genetic researcher Dr. Robert Hegele, Heart and Stroke Foundation of Canada Lecturer at the Canadian Cardiovascular Congress 2009. Dr. Hegele's work is unravelling the nature vs. nurture debate that has intrigued scientists for years. He says that for about five per cent of patients, the effect of genetics is so strong there is little they can do, but that 95 per cent of us can override our genes by following a healthy lifestyle. "Even if you've been dealt a bad hand of genes, it's not a life sentence for most people," says Dr. Hegele, director of the Martha G. Blackburn Cardiovascular Genetics Laboratory at Robarts Research Institute. "Simple actions - basic things like smoking cessation, following a healthy diet, and physical activity - are the key to overturning genetic predisposition." - Robarts Research

Aging heart can be prevented, say scientists (Japan)

Scientists in Japan said they have uncovered evidence that shows it may be possible to delay or prevent heart failure in humans. In a paper published in the journal Circulation, Tetsuo Shioi, lead researcher and assistant professor of medicine at Kyoto University Graduate School of Medicine in Kyoto, and his team described how they managed to suppress a variety of the P13K gene in a group of elderly mice. The gene regulates the lifespan of cells and plays a role in the aging of tissues. In previous studies, suppression of this gene extended the lifespan of the roundworm and kept the hearts of old fruit flies healthy. Compared with another group of mice in which the gene was left intact, mice with the suppressed gene had improved cardiac function, less fibrosis (which makes the heart inflexible) and fewer biological markers of aging. "This study showed that aging of the heart can be prevented by modifying the function of insulin and paves the way to preventing age-associated susceptibility to heart failure," Shioi said - Reuters

'Heart disease gene' uncovered (South Africa)

Stellenbosch, South Africa, scientists have identified a heart disease gene in a South African family that has been plagued by a rare heart condition for more than 300 years. The rogue gene - which contains a rare protein mutation - has been traced back to a Portuguese emigrant who came to the Cape from Madeira in 1694. Descendants of the man - who married a woman of Dutch descent - now live throughout South Africa. Until recently, they were far more likely than the general population to suffer fatal heart complications. Now, however, knowledge about their genetic status means they are forewarned and able to seek help in the form of pacemakers, which allow them to live relatively normal lives. The medical breakthrough, soon to be published in an international medical journal, is not only a major triumph for South African research but also for a father-and-son research team, professors Andries and Paul Brink, who spearheaded the project at different times during a 35-year research quest. - The Times

Single gene defect can cause stroke, other artery diseases

"For the first time, scientists have discovered a single gene defect that causes thoracic aortic aneurysms and dissections as well as early onset coronary artery disease, ischemic stroke and Moyamoya disease. The research is led by scientists at The University of Texas Health Science Center at Houston. The study, "Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Early Onset Coronary Artery Disease, Stroke and Moyamoya Disease, Along with Thoracic Aortic Aneurysms and Dissections," was published early online April 30 in the American Journal of Human Genetics." - GEN

Veterinary cardiologist discovers gene for heart disease

Washington State University veterinary cardiologist Kathryn M. Meurs has discovered a mutant gene in the Boxer breed that causes a type of heart disease that can be fatal in animals and humans. Well known in the Boxer breed community, the disease is called Boxer cardiomyopathy. The more formal term is arrhythmogenic right ventricular cardiomyopathy or ARVC. This is same type of heart disease that caused the sudden death of 1950s college and pro football great Joe Campanella at age 36, as he played handball with the new head coach of the Baltimore Colts, Don Shula. In Boxers, the disease can be fatal and frequently occurs when the animals exercise or become excited. Occasionally, they perish from the disease while at rest, too. "Dr. Meurs' discovery of both the gene and its location is a tremendous achievement in the cardiology of humans and animals," said Bryan Slinker, dean of WSU's College of Veterinary Medicine, and a recognized cardiac disease researcher. "This achievement not only helps Boxer breeders avoid this disease but it also provides an extraordinary advancement to the study of human heart diseases resulting from electrical conduction defects and the resulting heart muscle changes that occur." - newswise

Hopkins scientists ID 10 genes associated with a risk factor for sudden cardiac death

One minute, he's a strapping 40-year-old with an enviable cholesterol level, working out on his treadmill. The next, he's dead. That an abnormality in his heart's electrical system had managed to stay on the Q.T. until it proved lethal is characteristic of sudden cardiac death, which annually claims more than a quarter million Americans. A dearth of discernable symptoms and lack of detectable molecules circulating in the blood makes the prediction of sudden cardiac death largely dependent on genetic risk factors. Having identified 10 common variants of genes that modify the timing of the contraction of the heart, known as the QT interval, scientists in the Johns Hopkins University School of Medicine, in collaboration with an international contingent of researchers, now provide new insight about the underpinnings of the QT interval which, when prolonged or shortened, predisposes to sudden cardiac death. QT interval, which is determined from a standard electrocardiogram (ECG), reflects the time it takes for the heart (ventricles) to contract and then reset for the next heartbeat. Publishing March 22 in Nature Genetics, the international team including researchers from the Technical University in Munich, Johns Hopkins and others, used DNA samples previously collected for epidemiological studies to analyze the genomes of 15,842 individuals whose QT intervals had been measured by electrocardiogram. With DNA microarray chips, each able to assess hundreds of thousands of markers in each sample, followed by bioinformatic techniques to increase the number of markers, the researchers screened approximately 2.5 million markers to detect subtle alterations in the sequences of these genomes that modify the QT interval. - GEN

Sudden heart failure gene discovered (Holland)

"Researchers have discovered the gene responsible for sudden heart failure among young people, the Amsterdam Medical Centre (AMC) said. In a study, the results of which will be published on the American Journal of Human Genetics website, the focus was on familiar idiopathic ventricle fibrillation, an unexplained life-threatening heart rhythm disorder. People who suffer from this disorder experience unexpected fast contractions of the muscles of the heart chamber. This blocks the heart's regular pumping function and quickly results in cardiac arrest" - 9news

VAP Cholesterol Test helps in search for new heart disease drugs

"Using the VAP Cholesterol Test from Atherotech, Inc., University of Maryland researchers have found an association between a rare gene mutation and heart protection. The information reported in a recent study could help in the development of heart disease risk-lowering drugs and also demonstrates the value of advanced lipid profile testing in the identification of individuals at increased risk of heart disease. The genome-wide association study (GWAS) of fasting and postprandial triglyceride levels was performed as part of the Heredity and Phenotype Intervention (HAPI) Heart Study. The results, published in the highly respected journal, Science, identified a specific gene mutation (APOC3 R19X) present in 5 percent of a Lancaster County, Pa., Amish community. This rare genetic occurrence prevents the production of a protein (apoC-III) that leads to increased rates of atherosclerosis" - Yahoo

SLU researchers part of study on gene therapy for heart failure

"Cardiologists at Saint Louis University are participating in what they say are the first-ever clinical trials of gene therapy to treat severe heart failure. Researchers say it could be the first to not only treat symptoms of heart failure but to actually reverse the severity of the disease. Saint Louis University is among 13 research centers involved in the project. The study will investigate whether MYDICAR, a genetically targeted enzyme replacement therapy, can repair heart muscle that was damaged by either a prior heart attack or heart muscle disease. Heart failure affects about 5 million Americans" - KSDK.com

Gene therapy reverses heart damage

"Long-term gene therapy has found to be effective in improving cardiac function and reversing heart damage in heart failure. During the study, the researchers treated the rats with a gene that generates a peptide called ARKct, which was administered to hearts in combination with recombinant-adeno-associated virus serotype 6 (rAAV6.) ARKct works by inhibiting the activation of G protein-coupled receptor kinase 2 (GRK2)." - Zeenews.com

Clinic aims to prevent sudden deaths

When 16-year-old Taylor Allan suddenly died of an undiagnosed fatal heart defect last April, her family and friends were devastated and confused. It was only after the death of this seemingly healthy young athlete that they learned she had a deadly genetic cardiac abnormality that had gone undetected all her life. Now, there's new help in Kingston for people who have these unusual cardiac diseases. A new clinic is opening at Hotel Dieu Hospital to help prevent deaths such as Allan's from happening by diagnosing potentially fatal genetic heart problems with a highly specialized series of tests. Dr. Chris Simpson, medical director of the joint cardiac program at Hotel Dieu and Kingston General hospitals, said that though these conditions are rare, most cases go undiagnosed or underdiagnosed. "They're much more common than we thought," he said. "So finding them in advance, before people have their sudden death episode, can prevent it." Simpson estimated there are about four or five deaths from genetic heart conditions in Kingston each year. "I think they're all preventable," he said. Canada only has a handful of specialized genetic heart defect clinics, including ones in Halifax, Ottawa and Toronto. "This [Kingston] clinic gives us a chance to get the word out there to people that these diseases do exist," said Simpson. Kingston's Inherited Heart Rhythm Disease Clinic targets patients and their families who need to be tested for genetic heart diseases - Whig Standard

Eleven new gene sites linked to cholesterol, triglyceride levels

"An international research team has identified 11 novel locations in the human genome where common variations appear to influence cholesterol or triglyceride levels, bringing the total number of lipid-associated genes to 30. While major mutations in some of these genes have been known to underlie rare lipid metabolism disorders, it is becoming apparent that common changes in the same genes that have modest effects can combine with risk-associated variants in other genes to significantly influence blood lipid levels. The report to appear in the journal Nature Genetics is being released online. - Science Daily