RESUMEN
Long QT Syndrome (LQTS) is a genetic heart disorder that can induce cardiac arrhythmias. The most prevalent subtype, LQT1, stems from rare variants in the KCNQ1 gene. Utilizing induced pluripotent stem cells (iPSCs) enables detailed cellular studies and personalized medicine approaches for this life-threatening condition. We generated two LQT1 iPSC lines with single nucleotide nonsense mutations, c.1031 C > T and c.1121 T > A in KCNQ1. Both lines exhibited typical iPSC morphology, expressed high levels of pluripotent markers, maintained normal karyotype, and possessed the capability to differentiate into three germ layers. These cell lines serve as important tools for investigating the biological mechanisms underlying LQT1 due to mutations in the KCNQ1 gene.
Asunto(s)
Células Madre Pluripotentes Inducidas , Canal de Potasio KCNQ1 , Síndrome de QT Prolongado , Humanos , Canal de Potasio KCNQ1/genética , Canal de Potasio KCNQ1/metabolismo , Células Madre Pluripotentes Inducidas/metabolismo , Síndrome de QT Prolongado/genética , Síndrome de QT Prolongado/patología , Síndrome de QT Prolongado/metabolismo , Línea Celular , Heterocigoto , Mutación , Masculino , Femenino , Diferenciación CelularRESUMEN
KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member) encodes a voltage-activated potassium channel role as rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of the ventricular action potential. Mutations in this gene can cause long QT syndrome and short QT syndrome. Transcript variants encoding distinct isoforms were also identified. In this study, we generated induced pluripotent stem cells (iPSC) from a healthy individual by electroporation of peripheral blood mononuclear cells and generated a KCNH2 heterozygous knockout human iPSC line via CRISPR/Cas9 gene editing. The resulting iPSCs had a normal karyotype, were free of genomically integrated epitomal plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.
Asunto(s)
Canal de Potasio ERG1 , Heterocigoto , Células Madre Pluripotentes Inducidas , Síndrome de QT Prolongado , Células Madre Pluripotentes Inducidas/metabolismo , Humanos , Canal de Potasio ERG1/genética , Canal de Potasio ERG1/metabolismo , Síndrome de QT Prolongado/genética , Síndrome de QT Prolongado/metabolismo , Síndrome de QT Prolongado/patología , Línea Celular , Sistemas CRISPR-Cas , Técnicas de Inactivación de Genes , Diferenciación Celular , Edición Génica , Arritmias CardíacasRESUMEN
Las alertas generadas por las agencias reguladoras acerca de la posible toxicidad cardíaca del citalopram y el escitalopram han generado alarma entre los clínicos prescriptores. La revisión de los datos acerca de la mencionada toxicidad evidencia que debe limitarse a pacientes con historia clínica de síncopes o en casos de intoxicación. Como medida de precaución debería introducirse la realización de un electrocardiograma en pacientes de edad avanzada (AU)
The alerts issued by regulatory agencies on the potential cardiac toxicity of citalopram and escitalopram have caused alarm among clinicians. A review of the data concerning this topic shows that the alarm should be limited to patients with a history of syncope or poisoning. As a precautionary measure, an electrocardiogram should be performed on elderly patients (AU)
Asunto(s)
Humanos , Masculino , Femenino , Síndrome de QT Prolongado/complicaciones , Síndrome de QT Prolongado/tratamiento farmacológico , Citalopram/efectos adversos , Citalopram/toxicidad , /complicaciones , Enfermedades Cardiovasculares/inducido químicamente , Enfermedades Cardiovasculares/complicaciones , Enfermedades Cardiovasculares/prevención & control , Síndrome de QT Prolongado/patología , Síndrome de QT Prolongado/prevención & control , Síndrome de QT Prolongado , Citalopram/administración & dosificación , Arritmias Cardíacas/complicaciones , Cardiopatías/inducido químicamente , Cardiopatías/complicaciones , FarmacovigilanciaRESUMEN
The advancement of studies about the molecular biology and electronic physiology on sudden cardiac death was summarized in this article, including particularly cardiac concussion(commotio cordis), congenital long QT syndrome, and Brugada syndrome which probably resulting in fatal arrhythmia and sudden cardiac death. These corpses of fatal functional disorders often show the results of negative autopsy without obvious organic pathological changes. So when come across negative autopsy the medical examiner and the pathologist should be careful to investigate the inductive cause of sudden death, the history of disease, and the family history, then to rule out the possibility of the above disorders.