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Review

Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)

  • Authors:
    • Silvia Jiménez-Morales
    • Carlos J. Pérez-Amado
    • Elizabeth Langley
    • Alfredo Hidalgo-Miranda
  • View Affiliations / Copyright

    Affiliations: Laboratory of Cancer Genomics, National Institute of Genomic Medicine, 14610 Mexico City, Mexico, Biochemistry Sciences Program, National Autonomous University of Mexico, 04510 Mexico City, Mexico, Department of Basic Research, National Cancer Institute, 14080 Mexico City, Mexico
  • Pages: 923-936
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    Published online on: July 4, 2018
       https://doi.org/10.3892/ijo.2018.4468
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Abstract

High lactate production in cells during growth under oxygen-rich conditions (aerobic glycolysis) is a hallmark of tumor cells, indicating the role of mitochondrial function in tumorigenesis. In fact, enhanced mitochondrial biogenesis and impaired quality control are frequently observed in cancer cells. Mitochondrial DNA (mtDNA) encodes 13 subunits of oxidative phosphorylation (OXPHOS), is present in thousands of copies per cell, and has a very high mutation rate. Mutations in mtDNA and nuclear DNA (nDNA) genes encoding proteins that are important players in mitochondrial biogenesis and function are involved in oncogenic processes. A wide range of germline mtDNA polymorphisms, as well as tumor mtDNA somatic mutations have been identified in diverse cancer types. Approximately 72% of supposed tumor-specific somatic mtDNA mutations reported, have also been found as polymorphisms in the general population. The ATPase 6 and NADH dehydrogenase subunit genes of mtDNA are the most commonly mutated genes in breast cancer (BC). Furthermore, nuclear genes playing a role in mitochondrial biogenesis and function, such as peroxisome proliferators-activated receptor gamma coactivator-1 (PGC-1), fumarate hydratase (FH) and succinate dehydrogenase (SDH) are frequently mutated in cancer. In this review, we provide an overview of the mitochondrial germline variants and mutations in cancer, with particular focus on those found in BC.
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Copy and paste a formatted citation
Spandidos Publications style
Jiménez-Morales S, Pérez-Amado CJ, Langley E and Hidalgo-Miranda A: Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review). Int J Oncol 53: 923-936, 2018.
APA
Jiménez-Morales, S., Pérez-Amado, C.J., Langley, E., & Hidalgo-Miranda, A. (2018). Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review). International Journal of Oncology, 53, 923-936. https://doi.org/10.3892/ijo.2018.4468
MLA
Jiménez-Morales, S., Pérez-Amado, C. J., Langley, E., Hidalgo-Miranda, A."Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)". International Journal of Oncology 53.3 (2018): 923-936.
Chicago
Jiménez-Morales, S., Pérez-Amado, C. J., Langley, E., Hidalgo-Miranda, A."Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)". International Journal of Oncology 53, no. 3 (2018): 923-936. https://doi.org/10.3892/ijo.2018.4468
Copy and paste a formatted citation
x
Spandidos Publications style
Jiménez-Morales S, Pérez-Amado CJ, Langley E and Hidalgo-Miranda A: Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review). Int J Oncol 53: 923-936, 2018.
APA
Jiménez-Morales, S., Pérez-Amado, C.J., Langley, E., & Hidalgo-Miranda, A. (2018). Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review). International Journal of Oncology, 53, 923-936. https://doi.org/10.3892/ijo.2018.4468
MLA
Jiménez-Morales, S., Pérez-Amado, C. J., Langley, E., Hidalgo-Miranda, A."Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)". International Journal of Oncology 53.3 (2018): 923-936.
Chicago
Jiménez-Morales, S., Pérez-Amado, C. J., Langley, E., Hidalgo-Miranda, A."Overview of mitochondrial germline variants and mutations in human disease: Focus on breast cancer (Review)". International Journal of Oncology 53, no. 3 (2018): 923-936. https://doi.org/10.3892/ijo.2018.4468
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