Publication: El factor de transcripción Zfhx3 regula la expresión del gen SCN5A y la densidad de la corriente de sodio (INa) en el miocardio
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2023-04-18
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Universidad Complutense de Madrid
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Abstract
Los síndromes arritmogénicos hereditarios (SAH) son enfermedades raras muy complejas genética y fenotípicamente que alteran las propiedades eléctricas del corazón favoreciendo la aparición de arritmias en sujetos con corazones estructuralmente normales. La fibrilación auricular (FA) es una taquiarritmia caracterizada por una activación descoordinada y muy rápida de las aurículas. Es la arritmia cardíaca de mayor prevalencia en la población general (1-2%). El riesgo de sufrir FA aumenta marcadamente con la edad y es más frecuente en sujetos con hipertensión y diversas cardiopatías, así como en sujetos portadores de polimorfismos de un único nucelótido (SNPs) en genes identificados en estudios poblacionales. Entre los genes cuyos SNPs confieren un mayor riesgo de sufrir FA se encuentran los que codifican varios factores de transcripción (FT) incluyendo: Pitx2c, Tbx5, yZfhx3, entre otros. Existen también formas familiares de FA en las que la arritmia se manifiesta en ausencia de factores de riesgo a edades tempranas y siguiendo una herencia mendeliana. El Síndrome de Brugada (SBr) es un SAH que se caracteriza por una elevación del segmento STen las derivaciones precordiales derechas del electrocardiograma (ECG) y que se asocia a un aumento del riesgo de fibrilación ventricular y muerte súbita cardíaca (MSC)...
nherited arrhythmogenic syndromes (IAS) are rare diseases genetically and phenotypically complex that alter the electrical properties enhancing the arrhythmogenic risk in subjects with structurally normal hearts. Atrial fibrillation (AF) is a tachyarrhythmia characterized by an uncoordinated and very rapid activation of the atria. It is the most prevalent cardiac arrhythmia in the general population (1-2%). The risk of AF increases markedly with age and is more frequent in subjects with hypertension and various cardiovascular diseases, as well as in subjects with single nucelotide polymorphisms (SNPs) identified in population studies. Among the genes whose SNPs confer an increased risk of AF are those that encode several transcription factors (TF) including: Pitx2c, Tbx5, and Zfhx3. There are also inherited or familial forms of AF in which lone AF appears in young subjects following a mendelian hereditary pattern. Brugada syndrome (BrS) is a IAS characterized by a ST-segment elevation in the right precordial leads of the ECG and associated with an increased risk of ventricular fibrillation and sudden cardiac death (SCD)...
nherited arrhythmogenic syndromes (IAS) are rare diseases genetically and phenotypically complex that alter the electrical properties enhancing the arrhythmogenic risk in subjects with structurally normal hearts. Atrial fibrillation (AF) is a tachyarrhythmia characterized by an uncoordinated and very rapid activation of the atria. It is the most prevalent cardiac arrhythmia in the general population (1-2%). The risk of AF increases markedly with age and is more frequent in subjects with hypertension and various cardiovascular diseases, as well as in subjects with single nucelotide polymorphisms (SNPs) identified in population studies. Among the genes whose SNPs confer an increased risk of AF are those that encode several transcription factors (TF) including: Pitx2c, Tbx5, and Zfhx3. There are also inherited or familial forms of AF in which lone AF appears in young subjects following a mendelian hereditary pattern. Brugada syndrome (BrS) is a IAS characterized by a ST-segment elevation in the right precordial leads of the ECG and associated with an increased risk of ventricular fibrillation and sudden cardiac death (SCD)...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, leída el 17-02-2023