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Mitochondrial DNA alterations in human tumors

Alteraciones en el ADN mitocondrial de tumores humanos

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Abstract

Mitochondrial DNA (mtDNA) is a circular molecule containing 27 genes involved in mitochondrial biology and the mitochondrial energy-generating pathway, oxidative phosphorylation (OXPHOS). Alterations in mtDNA have been reported to accumulate with age and some mtDNA mutations are known to be responsible for specific degenerative diseases. Recently, somatic mtDNA variations have been described in human tumors, although their functional implications in tumorigenesis have so far not been elucidated. Given the relevance of mtDNA alterations in tumor progression, their clonal nature may allow their use as markers for tumor detection. The goal of the present review is to provide an overview of mtDNA alterations in tumors and the potential utility of mtDNA in the management of cancer patients.

Resumen

El ADN mitocondrial (ADNmt) es una molécula circular que contiene 27 genes implicados en la biología mitocondrial y en los procesos celulares generadores de energía de la oxidación fosforilativa (OXPHOS). Se ha detectado una acumulación de alteraciones en el ADNmt durante el envejecimiento y, además, mutaciones en el ADNmt son la causa de ciertas enfermedades degenerativas. Durante los últimos años se ha observado la presencia de variaciones somáticas en el ADNmt en tumores humanos, aunque todavía se desconocen sus posibles implicaciones en el desarrollo tumoral. Independientemente de la importancia de las alteraciones en el ADNmt durante el desarrollo tumoral, la naturaleza clonal de estas anormalidades las convierte en marcadores tumorales, potencialmente útiles en la detección precoz y en el seguimiento del enfermo de cáncer. La presente revisión pretende realizar una síntesis de la información acumulada hasta la fecha acerca de las alteraciones del ADNmt en tumores humanos y su posible uso en el manejo del enfermo de cáncer.

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  1. Centro Nacional de Investigaciones Oncológicas, Programa de Patología Molecular, C./ Melchor Fernández Almagro, 3, 28029, Madrid

    Montserrat Sánchez-Céspedes

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  1. Montserrat Sánchez-Céspedes
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Correspondence to Montserrat Sánchez-Céspedes.

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Sánchez-Céspedes, M. Mitochondrial DNA alterations in human tumors. Rev Oncol 5, 15–20 (2003). https://doi.org/10.1007/BF02712836

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  • DOI: https://doi.org/10.1007/BF02712836

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