Experimental models of Brugada syndrome
dc.contributor.author
dc.date.accessioned
2019-07-08T07:46:07Z
dc.date.available
2019-07-08T07:46:07Z
dc.date.issued
2019-05-01
dc.identifier.issn
1661-6596
dc.identifier.uri
dc.description.abstract
Brugada syndrome is an inherited, rare cardiac arrhythmogenic disease, associated with sudden cardiac death. It accounts for up to 20% of sudden deaths in patients without structural cardiac abnormalities. The majority of mutations involve the cardiac sodium channel gene SCN5A and give rise to classical abnormal electrocardiogram with ST segment elevation in the right precordial leads V1 to V3 and a predisposition to ventricular fibrillation. The pathophysiological mechanisms of Brugada syndrome have been investigated using model systems including transgenic mice, canine heart preparations, and expression systems to study different SCN5A mutations. These models have a number of limitations. The recent development of pluripotent stem cell technology creates an opportunity to study cardiomyocytes derived from patients and healthy individuals. To date, only a few studies have been done using Brugada syndrome patient-specific iPS-CM, which have provided novel insights into the mechanisms and pathophysiology of Brugada syndrome. This review provides an evaluation of the strengths and limitations of each of these model systems and summarizes the key mechanisms that have been identified to date.
dc.description.sponsorship
British Heart Foundation Intermediate Clinical Research Fellowship (NLM: FS/10/024/28266),
UK Cardiovascular Regenerative Medicine Centre Award (NLM: RM/13/2/30158), Obra social “la Caixa”,
Centro Nacional de Investigaciones Cardiovasculares (RB: CNIC-03-2008), Instituto de Salud Carlos III (RB:
FIS-PI08/1800 and Fondo Europeo de Desarrollo Regional), Fundació La Marató de TV3 [FSS: 20153910] and
Universitat de Girona (GJP: MPCUdG2016). ES, RB, GJP and FSS are members of the CIBERCV, an initiative of the
Instituto de Salud Carlos III, Spanish Ministry of Economy and Competitiveness
dc.format.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation.isformatof
Reproducció digital del document publicat a: https://doi.org/10.3390/ijms20092123
dc.relation.ispartof
International Journal of Molecular Sciences, 2019, vol. 20, núm. 9, p. 2123
dc.relation.ispartofseries
Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
dc.rights.uri
dc.subject
dc.title
Experimental models of Brugada syndrome
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.idgrec
029924
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
1422-0067