Brugada Syndrome

Brugada syndrome is a genetic syndrome that is characterized by arrhythmias and poses an elevated threat of sudden cardiac arrest. While devoting resources towards achieving advancements in the field of cardiovascular research, Protheragen has focused on rare disorders, such as Brugada syndrome, and offers an all-in-one service that combines diagnostics, therapeutics, and modeling of the disease in question.

Introduction to Brugada Syndrome

Brugada syndrome is an uncommon hereditary arrhythmic condition linked with sudden cardiac death. It is responsible for approximately 20% of all unexplained deaths in individuals who do not show any signs of having heart structural problems. Most of the genetic lesions occur in the cardiac sodium channel gene SCN5A which results in the typical abnormal electrocardiogram with ST-segment elevation in precordial leads V1 to V3 and a risk of suffering from ventricular fibrillation. Brugada syndrome is estimated to have a prevalence of 1 in 5,000 to 1 in 2,000 cases.

Fig.1 Main characteristics of Brugada syndrome (Brugada, J., et al., 2018)

Pathogenesis of Brugada Syndrome

Brugada syndrome is a heritable condition that usually follows an autosomal dominant pattern with incomplete penetrance. Genetic alterations are found in 11 to 28 percent of those suffering from Brugada syndrome. Over 90 percent of these occur in the SCN5A gene, which encodes the alpha subunit of the cardiac sodium channel Na_v1.5, responsible for the sodium inward current (INa). Brugada syndrome has also been associated with mutations in other channels or proteins that regulate channels.

Therapeutics Development for Brugada Syndrome

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a therapy plan recommendation. For guidance on therapy options, please visit a regular hospital.

Our Services

Knowing fully well that each research project is different, we provide options for customization so we can best suit your requirements. From diagnostic and therapeutic development services to the development of disease models, we aim to fulfill the needs of your particular research. We offer preclinical testing of therapeutic agents, which comprises the evaluation of pharmacokinetics and the assessment of the efficacy and safety of pharmacological interventions, enabling researchers to ascertain potential candidates for further development.

Therapeutic Development Services

Diverse Platforms

• Small Molecule Drug Development
• Gene Therapy Development
• Therapeutic Peptide Development

• Cell Therapy Development
• Therapeutic Antibody Development
• Therapeutic Protein Development

Animal Model Development for Brugada Syndrome

Animal models are certainly critical for research on Brugada syndrome. They help understand how diseases function, enable the evaluation of novel therapeutics, and assist in furthering the development of customized therapy. At our company, we offer specialized services in developing customized animal models for Brugada syndrome, providing a relevant platform for study.

Induced Animal Models

Brugada syndrome like electrocardiographic patterns is elicited by administering sodium channel blockers to animals.

• Pilsicainide-induced model
• Verapamil-induced model
• Pinacidil-induced model
• Other models

Genetically Engineered Models

Animals can be engineered to express mutant forms of the SCN5A gene, mirroring the electrophysiological abnormalities seen in Brugada syndrome.

• Scn5a knockout model
• Scn5a-1798insD knock-in model
• Other models

The assistance from Protheragen's team stays with you during the entire research process. We specialize in assisting with experimental design, data analysis, and project summary, guaranteeing that your research goals are fully accomplished. Reach out so we can talk about how we are able to help your research on Brugada syndrome.

Reference

• Brugada, Josep et al. "Present Status of Brugada Syndrome: JACC State-of-the-Art Review." Journal of the American College of Cardiology 72.9 (2018): 1046-1059.