UdG researchers study the mechanisms that regulate a gene implicated in sudden cardiac death

The most usual cause of Brugada syndrome is the presence of mutations in the DNA sequence that correspond to the SCN5A gene. A team of researchers from the UdG directed by Dr. Ramon Brugada has been granted European funds to study the mechanisms that regulate the expression of this gene and to analyse if these mechanisms are altered in patients with Brugada syndrome.

Sudden cardiac death, whose causes are related to the heart, is a natural death that occurs very soon after the symptoms appear. It is an important cause of death in young people from industrialized countries. In the Western world alone, sudden cardiac death affects 800,000 people a year, a number higher than the combined number of deaths due to AIDS, lung cancer, breast cancer and stroke.

Brugada syndrome is an illness characterised by an altered electrocardiogram and a high risk of sudden cardiac death. Its prevalence in Europe varies from 1 to 5 per 10,000 persons and is associated with a high rate of mortality, as it is responsible for between 4% and 12% of all sudden deaths. Brugada syndrome affects individuals with an average age of 40, although cases among infants have been described. Until now, the only effective treatment for patients with symptoms of Brugada syndrome has been the implantation of a defibrillator.

The SCN5A gene
The most common cause of Brugada syndrome – between 20% and 25% of the diagnosed cases – is the presence of mutations in the DNA sequence corresponding to the SCN5A gene. This gene codes for the alpha subunit of the sodium channel, a protein located in the cardiac cell cellular membranes that regulate the circulation of sodium ions in and out of the cell during cardiac action potential.

The mutations identified in the SCN5A gene cause a loss of sodium channel function, which produces an imbalance of ionic currents during the action potential that finally shows up as the altered electrocardiogram, typical of the illness.
In addition to the mutations to the SCN5A gene that affect the function of the channel, a reduction in the number of sodium channels in the membranes of cardiac cells can also lead to Brugada syndrome. This reduction may be caused by a defect in the SCN5A gene’s expression, which is the process by which the coded information in the SCN5A gene is transformed into the corresponding protein, in this case the sodium channel.

Under Ramon Brugada’s leadership, the main objective of the researchers of the Centre for Cardiovascular Genetics (University of Girona – IdiBGi) is to study the mechanisms regulating the SCN5A gene’s expression and to analyse if these mechanisms are altered in patients with Brugada syndrome.

A better future for diagnosis and treatment
Considering the clinical relevance of the cardiac sodium channel in different types of arrhythmia, researchers from the University of Girona predict that these studies will have an important impact on the future diagnosis and treatment of patients with cardiac arrhythmia and syndromes of sudden cardiac death.

The research project, titled “Study of the molecular mechanisms that regulate SCN5A expression”, and given the acronym “Sodium Channel”, will be developed over a four-year period with funds from the European Union. Specifically, the project has been funded as part of the 7th Framework Programme with a total of 100,000 euros through an individual Marie Curie International Reintegration Grant awarded to Dr Sara Pagans.

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