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Interacción compensatoria entre las proteínas asociadas a la sordera Clarin-1 y Clarin-2 que rige la variabilidad

Maureen Wentling^1,2, Aïda Yakhlef Sanchez^1,3, Nicolas Thelen⁴

¹Institut Pasteur, Institut De L'audition, AP-HP, INSERM U1335, CNRS, Fondation Pour l'Audition, IHU reConnect, Progressive Sensory Disorders, Pathophysiology and Therapy, Université Paris Cité, Paris, France.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)

|January 23, 2026

Resumen

Las proteínas Clarin-1 y clarin-2 se compensan entre sí, influyendo en la audición y el equilibrio. Su pérdida combinada empeora la pérdida de audición del síndrome de Usher tipo III (USH3), lo que sugiere que CLRN2

Área de la Ciencia:

Genética
Neurociencia
Otorrinolaringología

Sus antecedentes:

El síndrome de Usher tipo III (USH3) implica pérdida progresiva de audición, problemas vestibulares y retinitis pigmentosa, causado por mutaciones en CLRN1.
Las mutaciones en CLRN2 se han relacionado con pérdida de audición progresiva no sindrómica.
La variabilidad fenotípica en USH3 sugiere interacciones genéticas, potencialmente involucrando CLRN2.

Objetivo del estudio:

Investigar la interacción funcional entre CLRN1 y CLRN2.
Determinar el efecto combinado de la pérdida de Clrn1 y Clrn2 en la audición y la función del oído interno.
Explorar el papel de CLRN2 en la variabilidad de USH3.

Principales métodos:

Se generaron ratones doble knockout Clrn1-/-Clrn2-/-.
Se realizaron análisis de secuenciación de ARN y análisis funcionales/fisiológicos.
Se compararon los fenotipos de ratones doble knockout con ratones knockout individuales.

Principales resultados:

Clarin-1 y clarin-2 regulan conjuntamente funciones clave del oído interno: transducción mecanoeléctrica, homeostasis iónica y organización sináptica.
La pérdida combinada de Clrn1 y Clrn2 da como resultado un fenotipo auditivo más severo que la pérdida génica individual, lo que indica una compensación funcional.
Las variantes de CLRN2 pueden empeorar la pérdida de audición en pacientes con USH3.

Conclusiones:

Clarin-1 y clarin-2 exhiben una interacción compensatoria en el oído interno.
USH3 puede considerarse un trastorno dependiente de la red debido a interacciones génicas.
Los hallazgos respaldan la inclusión de CLRN2 en el cribado genético de USH3 y proporcionan una base para estrategias terapéuticas.

Palabras clave:

Clarin-1 y Clarin-2 síndrome de Usher tipo III variabilidad fenotípica de la audición homeostasis iónica transducción mecanoeléctrica sinaptopatía

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