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Genetic and Biochemical Approaches for In Vivo and In Vitro Assessment of Protein Oligomerization: The Ryanodine Receptor Case Study
Published on: July 27, 2016
Ampliación del espectro de enfermedades humanas relacionadas con RYR2: nuevas características electrocardiográficas,
Zahurul A Bhuiyan1, Maarten P van den Berg, J Peter van Tintelen
1Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands. z.a.bhuiyan@amc.uva.nl
Circulation
|September 19, 2007
Resumen
Una gran deleción en el gen del receptor de Ryanodina 2 (RYR2) causa taquicardia ventricular polimórfica catecolaminérgica y otros problemas del ritmo cardíaco. Este hallazgo genético amplía el espectro clínico conocido de afecciones cardíacas relacionadas con RYR2.
Área de la Ciencia:
- Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular
- Cardiología Molecular Cardiología Molecular
- Arritmología Arritmología.
Sus antecedentes:
- La taquicardia ventricular polimórfica catecolaminergica (CPVT) es un trastorno genético que causa ritmos cardíacos peligrosos durante el estrés.
- Los pacientes con CPVT a menudo presentan bradicardia y, a veces, infiltración de grasa ventricular derecha.
- Este estudio investiga dos familias con una presentación clínica expandida de la TPCV.
Objetivo del estudio:
- Identificar la causa genética de la CPVT en dos familias con características clínicas inusuales.
- Para ampliar la comprensión del papel del gen RYR2 en las arritmias cardíacas.
- Para caracterizar el espectro clínico completo asociado con las mutaciones RYR2.
Principales métodos:
- Evaluación clínica y seguimiento durante 15 años de 16 miembros de la familia.
- Análisis de vinculación para mapear el locus de la enfermedad al cromosoma 1q42-q43.
- Cribado genético utilizando PCR, MLPA y PCR de largo alcance para identificar mutaciones en RYR2 y ACTN2.
Principales resultados:
- Los individuos afectados presentaron arritmias ventriculares inducidas por el ejercicio, disfunción nodal sinoatrial y atrioventricular, fibrilación auricular y parada auricular.
- La disfunción ventricular izquierda y la dilatación se observaron en varios pacientes.
- Se identificó una gran deleción genómica en el exón 3 del gen RYR2 en todos los individuos afectados, derivada del deslizamiento de la polimerasa mediada por repetición de Alu.
Conclusiones:
- Este es el primer informe de una gran deleción genómica en RYR2 que causa CPVT.
- La eliminación identificada de RYR2 está asociada con un fenotipo extendido, que incluye disfunción auricular y nodal y cardiomiopatía dilatada.
- Estos hallazgos amplían el espectro clínico conocido vinculado a los defectos del gen RYR2.
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