International Journal of Molecular Sciences Review Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression Carlos Jhovani Pérez-Amado 1,2 , Amellalli Bazan-Cordoba 1,2, Alfredo Hidalgo-Miranda 1 and Silvia Jiménez-Morales 1,* 1 Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico;
[email protected] (C.J.P.-A.);
[email protected] (A.B.-C.);
[email protected] (A.H.-M.) 2 Programa de Maestría y Doctorado, Posgrado en Ciencias Bioquímicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico * Correspondence:
[email protected] Abstract: Cancer is a serious health problem with a high mortality rate worldwide. Given the rele- vance of mitochondria in numerous physiological and pathological mechanisms, such as adenosine triphosphate (ATP) synthesis, apoptosis, metabolism, cancer progression and drug resistance, mito- chondrial genome (mtDNA) analysis has become of great interest in the study of human diseases, including cancer. To date, a high number of variants and mutations have been identified in different types of tumors, which coexist with normal alleles, a phenomenon named heteroplasmy. This mecha- nism is considered an intermediate state between the fixation or elimination of the acquired mutations. It is suggested that mutations, which confer adaptive advantages to tumor growth and invasion, are enriched in malignant cells. Notably, many recent studies have reported a heteroplasmy-shifting phenomenon as a potential shaper in tumor progression and treatment response, and we suggest that each cancer type also has a unique mitochondrial heteroplasmy-shifting profile. So far, a plethora Citation: Pérez-Amado, C.J.; Bazan-Cordoba, A.; Hidalgo-Miranda, of data evidencing correlations among heteroplasmy and cancer-related phenotypes are available, A.; Jiménez-Morales, S.