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Egyptian Journal of Medical Human Genetics

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The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology

Rafael Vincent M. Manalo, Paul Mark B. Medina

Abstract


The minute experience of disease progression happens in the cell. Whereas recent researches have focused separately on disease, molecular mechanisms reveal the coincidence of pathways that provide guided benefit to biomedicine. Interestingly, taken-for-granted mechanisms like endoplasmic reticulum (ER) quality control or ion exchange and cell polarity indeed play major roles in epidemiologically relevant problems like viral infection, tumorigenesis and other chronic disorders. The ER synthesizes proteins destined for the nucleus and Golgi, as well as cell-surface receptors needed for cell-to-cell communication. This is therefore the target of viral infection in making the cell susceptible to receptor-mediated invasion, and is usually affected in tumor cells to promote cell insensitivity. Any aberrations therefore, such as protein unfolding, are acted upon by molecular chaperones and prevented from leaving the ER. These proteins are essential for cell survival, and intuitively the ER must activate stress responses to evade immediate cell dysfunction as the cell processes lag behind. This review will discuss mainly the ER and its role in the pathogenesis and pathophysiology of epidemiologically-relevant diseases, as well as updates on mechanisms related to the ER stress response.

Keywords: Endoplasmic reticulum, ER stress response, Hormesis, Unfolded protein response, ER overload response




http://dx.doi.org/10.1016/j.ejmhg.2017.07.004
AJOL African Journals Online