2024-03-28T18:29:34Zhttps://www.tdx.cat/oai/requestoai:www.tdx.cat:10803/4069512017-11-07T16:54:37Zcom_10803_253col_10803_34764
nam a 5i 4500
Mort sobtada cardíaca
Sudden cardiac death
Muerte súbita cardíaca
Gen RyR2
RyR2 gene
Homeòstasi de Ca 2+
Arrhytmogenic intracellular Ca2+ handling
Taquicàrdia ventricular polimòrfica catecolaminèrgica
Catecholaminergic polymorphic ventricular tachycardia
Determinants moleculars de la mort sobtada cardíaca en una gran família de les Illes Canàries
[Girona] :
Universitat de Girona,
2017
Accés lliure
http://hdl.handle.net/10803/406951
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Bosch Calero, Cristina,
autor
1 recurs en línia (232 pàgines)
Tesi
Doctorat
Universitat de Girona. Departament de Ciències Mèdiques
2016
Universitat de Girona. Departament de Ciències Mèdiques
Tesis i dissertacions electròniques
Brugada, Ramon,
supervisor acadèmic
Pérez González, Guillermo Javier,
supervisor acadèmic
Brugada, Ramon,
supervisor acadèmic
TDX
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a sudden cardiac
death (SCD) associated disease characterized by the presence of polymorphic or
bidirectional ventricular tachycardia during emotional or physical stress. Most cases of
CPVT are caused by mutations in the RyR2 gene. This thesis starts with the
identification of a large family in the Canary Islands, with a long history of SCD due to
CPVT. The genetic study revealed the presence of a mutation in the RyR2 gene in
affected patients. The functional and proteomic studies of the channel has shown that
the mutation unmasks its pathogenicity behavior only in conditions that mimic
catecholaminergic stress and these functional consequences could be due to the
introduction of a new phosphorylation site in the mutant channel. The evidence
presented in this thesis shed light into the mechanisms by which RyR2 mutations may
promote arrhytmogenic intracellular Ca2+ handling associated with SCD.
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