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Errores congénitos del metabolismo del ARN en humanos con infección viral del tronco cerebral

Shen-Ying Zhang¹, Nathaniel E Clark², Catherine A Freije³

¹St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France.

|February 24, 2018

Resumen

Las mutaciones en el gen DBR1 causan una deficiencia en la enzima de desbranqueamiento del ARN lariat, lo que lleva a infecciones graves del tronco cerebral en los niños. Este defecto genético afecta la defensa natural del cuerpo contra virus como el HSV1.

Área de la Ciencia:

La genética
Virología
Inmunología

Sus antecedentes:

Los virus benignos pueden infectar el tronco cerebral de los niños sanos.
El gen DBR1 codifica la enzima de desbranqueamiento del ARN lariat, crucial para el procesamiento del ARN.

Objetivo del estudio:

Investigar la base genética de las infecciones recurrentes del tronco cerebral.
Determinar el papel de DBR1 en la susceptibilidad viral y la inmunidad del tronco cerebral.

Principales métodos:

Secuenciación genética para identificar mutaciones en DBR1.
Ensayos celulares utilizando fibroblastos de pacientes para evaluar los niveles de ARN lariado y la susceptibilidad viral.
Análisis de los patrones de expresión de DBR1 en diferentes tejidos.

Principales resultados:

Se identificaron mutaciones bialélicas de DBR1 en pacientes no relacionados con infecciones del tronco cerebral.
Las mutaciones de DBR1 dieron lugar a alelos severamente hipomórficos con expresión y función reducidas.
Los fibroblastos con deficiencia de DBR1 mostraron una mayor acumulación de ARN lariado y una mayor susceptibilidad a la infección por HSV1.
La acumulación de ARN de tipo salvaje DBR1 rescatado y la susceptibilidad viral en las células del paciente.

Conclusiones:

La deficiencia autosómica recesiva parcial de DBR1 interrumpe la inmunidad específica del tejido, lo que predispone a las personas a infecciones virales graves del tronco cerebral.
DBR1 juega un papel crítico en la inmunidad celular intrínseca contra los virus, particularmente en el tronco cerebral.

Palabras clave:

DBR1 y DBR2 Desbranqueamiento de las larías de ARN el tronco cerebral Encefalitis por virus

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