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Órgano Oficial del Instituto de Ciencias de la Salud, Hospital Escuela y Facultad de Medicina-Xalapa

2010, Number 2

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Rev Med UV 2010; 10 (2)

Diseases associated with mutations and changes in expression of sarco(endo)plasmic reticulum Ca2+-ATPases

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

Language: Spanish
References: 78
Page: 40-48
PDF size: 522.69 Kb.


ABSTRACT

This review describes the structure and function of sarco(endo) plasmic reticulum Ca2+-ATPases (SERCA), and analyzes the effects of mutations and alterations in their expression in some pathologies. SERCA enzymes catalyze the active transport of Ca2+ from the cytoplasm to the sarco(endo)plasmic reticulum against a concentration gradient. These enzymes play an important role in cellular processes activated by calcium, such as: muscular contraction, gene expression, apoptosis, cell proliferation, among others. In higher vertebrates, there are three genes encoding SERCA enzymes (SERCA1-3), but multiple isoforms are generated by alternative splicing of the mRNA from these genes, a tissuespecific process and regulated during development. The correct activity and expression of theses enzymes is essential for cell metabolism. Mutations on SERCA1 gene have been associated with Brody’s disease, a recessive myopathy; whereas mutations on SERCA2 gene have been associated with Darier’s disease, a skin disorder. Alterations on expression and activity of SERCA enzymes have been also found in heart failure, and recently in several types of cancer. Therefore, is important to understand the role of these enzymes in normal physiology of the cell, in order to understand what occurs in some pathologies.


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