A novel experimental gene therapy manages to tackle Brugada syndrome, a dangerous heart disease

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A study published in the journal ‘Science Translational Medicine’ shows how it is possible to reduce the symptoms of this life-threatening pathology.

Ventricular arrhythmias treated with defibrillation
Ventricular arrhythmias treated with defibrillation typical of patients with high arrhythmia risk and Brugada syndrome.a porta-schanze

Brugada syndrome is a dangerous and life-threatening heart disease. There is currently no curative treatment and the focus is on the available options treatment of complications derived from it. About 25% of these patients were identified as a . is done by sodium channel genetic mutationin the genes scn5a, Using this mutation as a target, a group of researchers led by Gang Yu have developed a novel gene therapy which has yielded promising results in mouse models.

The results of this research have been published in the journal science translation therapy And they represent the first step toward the discovery of a curative treatment for Brugada syndrome, which will be a milestone for this pathology. “It’s certainly something promising and can be This genetic mutation is of great importance for the subgroup of patients presenting, It’s not a solution for everyone, but if it can be tested in an animal model larger than the human heart, it could be considered as a palliative treatment,” he explains. Andreu Porta-SnatchezPhysician and researcher in the arrhythmia unit of the Hospital Clinic i Provincial de Barcelona and the August PI i Sunair Biomedical Research Institute (IDIBAPS).

Developing a new mouse model

The research that Gang Yu led began with the creation of a mouse model for Brugada syndrome, an important first step for all of his later work. “It’s very interesting work in that sense, because they induced a mutation in a gene that encodes a sodium channel, which is partly responsible for Brugada syndrome. With this they have achieved Properly reproduces certain aspects of the disease in rats,” says Andreu Porta-Sánchez.

This was how this was achieved, for example, these rats had a higher incidence of arrhythmias, both ventricular and atrial, and also a higher incidence of heart failure. Murte sbita, The model, however, is not perfect and some aspects of the disease have not been recapitulated as well in humans. “It may lie in the difference between the mouse heart and the human heart,” Porta-Snez says.

Overcoming the loss of very large proteins

Once the team of researchers already had a mouse model, the second part of the work involved developing a gene therapy that could combat the disease. In this phase, the team led by Gang Yu faced the difficulty that scn5a es Viral vector too large to be used As is common in current gene therapies and that is responsible for introducing the protein that corrects the mutation. “What they have done to overcome this difficulty is to fix one of the components that are responsible for carrying this protein across the cell membrane. And, by achieving this, they work normally on the cell membrane.” have managed to improve the expression of sodium channels,” says the IDIBAPS researcher.

The team of researchers who have now published this study in science translation therapy It is even proposed that the same technique be used in T. can be done fortreatment of other arrhythmias, although Porta-Snatchez believes it is not that simple. “It is not easy to find these diseases that have a similar mechanism and it is not easy to find the important regulatory point that they have been fortunate to find in this case.”

next step in investigation

The obtained results have been very promising, and undoubtedly encourage further research in this direction. The next step would be to obtain a large mammal model, which has its advantages but also drawbacks, as Porta-Snez has very well explained. “The advantage is that these hearts are completely comparable to humans. But the disadvantage is that gene therapy is in insufficient development, because levels of adeno-associated virus infection nowadays are not enough to cure the disease at the heart level, This is a step that is being attempted but it is still in the development stage.”

If all of these barriers can be overcome, it will be possible in the future that the percentage of patients with Brugada syndrome will eventually become a curative treatment, Today these patients only have the option of an implantable defibrillator when they are at high risk of sudden death or if they have had it and have recovered, it is also an alternative to drugs when transplantation is not possible. “In recent years, the possibility of rehabilitation with a Epicardial Radiofrequency AblationBut it is still a therapy that is not considered curative”, says Andreu Porta-Snez.

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