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La transcriptómica integradora y el perfilado electrofisiológico de las neuronas derivadas de hiPSC identifican
A H A Verboven1, S Puvogel1, B L Latour1
1Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, 6500 HB, Nijmegen, the Netherlands.
Molecular psychiatry
|February 12, 2026
Resumen
Las redes neuronales del síndrome de Koolen-de Vries (KdVS) muestran actividad alterada. MEA-seq identificó a la floretina como un candidato terapéutico potencial al mejorar la función mitocondrial y la actividad de la red en las neuronas derivadas de pacientes con KdVS.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Genética La genética.
- Biología de las células madre Biología de las células madre
Sus antecedentes:
- El síndrome de Koolen-de Vries (KdVS) es un trastorno del desarrollo neurológico relacionado con defectos en el gen KANSL1.
- Actualmente, no existen tratamientos efectivos para el KdVS, lo que requiere la investigación de sus mecanismos subyacentes.
Objetivo del estudio:
- Para investigar la disfunción de la red neuronal en KdVS utilizando células derivadas de pacientes.
- Identificar mediadores moleculares y objetivos terapéuticos potenciales para el KdVS.
Principales métodos:
- Utilizó neuronas derivadas de células madre pluripotentes inducidas humanas (hiPSC) de pacientes con KdVS y controles.
- Se emplean matrices de microelectrodos (MEAs) para registros electrofisiológicos y MEA-seq para el perfilado integrado del transcriptoma.
- Compuestos examinados contra la firma transcriptómica KdVS utilizando la base de datos de perturbación de fármacos LINCS.
Principales resultados:
- Las redes neuronales KdVS mostraron tasas de ráfaga reducidas y una mayor variabilidad de la ritmicidad.
- Se identificó una correlación negativa entre la expresión génica de CLCN4 y la tasa de explosión de la red; el bloqueo de CLCN4 restauró parcialmente la función de la red.
- Se confirmó el deterioro de la función mitocondrial en las neuronas KdVS e identificó la floretina como un compuesto que mejora la actividad de la red, reduce el estrés oxidativo y rescata la densidad sináptica.
Conclusiones:
- El perfilado integrador MEA-seq vincula efectivamente las alteraciones moleculares y electrofisiológicas en KdVS.
- La floretina demuestra un potencial terapéutico para el KdVS al dirigirse a la disfunción mitocondrial y las anomalías de la red.
- Este marco puede acelerar el descubrimiento de fármacos para KdVS y otros trastornos del desarrollo neurológico.
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