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we will study the mechanisms responsible for a disease that causes sudden death during physical exercise

Рwill study call arritmog̩nica right ventricular dysplasia causing mutations

-the goal is to get an early diagnosis and therapy for reverse the pathology

-this disease is the cause of the sudden death of football player Antonio Puerta and other elite athletes

Valencia, 2011-August scientific research center Prince Philip have launched a project pioneer in the study of one of the mechanisms responsible for sudden death. The scientist Antonio Díez-Juan, principal investigator of the laboratory of Cardiovascular Repair and regeneration unit joint implementation between CIPF and the faith Health Research Institute; He led this project to study the so-called dysplasia arritmogénica of the right ventricle, within a line of research dedicated to the study of the molecular basis of diseases that cause of sudden death, with the aim of finding an early diagnostic methodology, as well as potential therapies to reverse these diseases.

For the launch of the project, the Antonio Díez-Juan scientific team collaborates with professionals from other institutions such as the Dra, Marta married of the Institute of Biomedicine of Valencia (IBV-CSIC), and the Dr. Joaquín Gadea of the University of Murcia, who have collaborated in the development of various models. Also, identification of genes associated with disease, has been in charge of the Montserrat Lorenzo doctors and Martín Ortiz from the Health enterprise in Code of A Coruña.

The so-called “ cardiomyopathy or arritmogénica right ventricular dysplasia ” (MAVD) based project, is a genetic mutation that leads to a degeneration of the heart, and is listed as one of the main causes of sudden death in elite athletes. As a result of this mutation, the cardiomyocytes (heart cells) acquire the properties of the Adipocyte (fat cell), and due to the accumulation of fat and to the lipotoxicidad, the cardiomicitos finally die, with the consequent degeneration of cardiac tissue.

As points out Dr. Antonio Díez-Juan “ this condition involves mainly two problems, on the one hand the loss of muscle mass in the heart; and on the other hand, the fact that as fat is electrical insulator, this gives rise to conduction problems that generate an arrhythmia, and for this reason patients can die instantly, producing what is known for sudden death ”.

The fact that called sudden death occurred in athletes is not casual. As explained by Díez-Juan, “ by unknown mechanisms that we are currently investigating, disease is will worsen more if done much sport, degeneration quickens, and if it survives a first episode of cardiac failure there are increasingly more frequent and severe episodes ”. In cases of people with a more sedentary lifestyle, the disease progresses more slowly and is usually not detected unless specific evidence that typically only perform asymptomatic parents of the deceased to occur.

The problem of the treatment

So far, the most relevant feature of this disease of the heart muscle is the cause of sudden death in young individuals. Clinical literature has noted the existence of affected families, and found the presence of a disease genetic basis, although isolated cases are also frequent.

Currently available for the treatment solutions are the restriction of the exercise, some drugs that reduce arrhythmias and implantable portable defibrillators. In those cases in which the heart tissue is greatly affected, the only existing solution so far is transplantation.

However, as pointed out by Díez-Juan, “ these solutions are only valid for patients who were diagnosed in advance disease, and not those in which the disease remains hidden, and Moreover there is currently no treatment to stop the deterioration of the heart muscle ”. There are many asymptomatic cases in which the first clinical manifestation of the pathology occurs abruptly with the sudden death episode in apparently healthy individuals, it would be necessary to find a diagnostic methodology and early detection, as well as treatments to reverse the pathology.

A project pioneer

The study based on the identification of mutations in affected patients. Once identified the mutation, researchers cloned the gene mutated as a first step to develop a more comprehensive study.

The first step in the study of the regeneration and repair Vascular laboratory is the generation of a cell model, i.e. cell culture laboratory to test drugs in vitro, in order to investigate whether you can reduce or decelerating the progression of the disease in some way. On the other hand, scientists developed animal models of pathology to study peculiarities in vivo. As a third step of the research, cells of the patients themselves will be obtained for study and testing compounds that prevent the degeneration of cells. According to Díez-Juan, “ project is in its earliest stage, with the launch of the cells that will give way to the analysis, results will facilitate the search for funding to move forward with the project ”.

The conclusions and results of the various stages of this study will serve as platform basis for progress in the detection, diagnosis and treatment of arritmogénica right ventricular cardiomyopathy, and in the future is expected to expand the project to the study of other cases caused by other mutations affecting the functioning of the heart also.

The characteristics of a disease with high incidence in elite athletes

Previous studies have shown that the MAVD constitutes one of the main causes of sudden death in young adults, with one incidence higher among athletes.

The history of the information recorded about this disease begins in 1977, when a young Italian physician died suddenly while he played tennis, and his case study investigation greater scope. Since then they have detected cases around the world, some with greater impact due to the popularity of some characters such as some famous athletes.

Affects MAVD at approximately 1 of every 5000 people, so it is considered a relatively rare disease. However, this estimate may underestimate its actual prevalence, since due to its characteristics and the difficulty of diagnosis, there are many cases not diagnosed. The social interest generated by the pathology has increased as a result of cases in which those affected were known in the field of sport.