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2010, Número 2

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Rev Med UV 2010; 10 (2)


Enfermedades asociadas con mutaciones y cambios en la expresión de las ATPasas-Ca2+ del retículo sarco(endo)plásmico

Contreras-Leal E, Zarain-Herzberg Á, Santiago-García J

Idioma: Español
Referencias bibliográficas: 78
Paginas: 40-48
Archivo PDF: 522.69 Kb.


RESUMEN

En este artículo de revisión se describe la estructura y función de las ATPasas de Ca2+ del retículo sarco(endo)plásmico (SERCA, por sus siglas en inglés: Sarco(Endo)plasmic Reticulunm Calcium ATPases) y se analiza el efecto de algunas mutaciones y alteraciones de su expresión en diversas patologías. Las enzimas SERCA catalizan el transporte activo de iones Ca2+ del citoplasma al lumen del retículo sarco(endo)plásmico, en contra de su gradiente de concentración. Estas enzimas tienen un papel importante en la regulación de los procesos celulares activados por calcio, como contracción muscular, liberación de neurotransmisores, expresión genética, apoptosis y proliferación celular, entre otros. En vertebrados superiores existen tres genes que codifican para las enzimas SERCA (SERCA1 a 3), pero la edición alterna de sus mensajeros da origen a una gran diversidad de isoformas, un proceso regulado de manera tejido específica durante el desarrollo. La correcta expresión y actividad de estas enzimas es muy importante para el buen funcionamiento celular. Las mutaciones en el gen SERCA1 se han asociado con la enfermedad de Brody, una miopatía hereditaria; y mutaciones en el gen SERCA2, con la enfermedad de Darier, una enfermedad de la piel. También se han encontrado alteraciones en la expresión y/o actividad de las enzimas SERCA en enfermedades cardiacas y recientemente en varios tipos de cáncer. Por lo anterior, resulta importante comprender el papel que desempeñan estas enzimas en la fisiología celular para poder entender qué ocurre en procesos patológicos.


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