Complexities and pitfalls in analyzing and interpreting mitochondrial DNA content in human cancer

Hieu Nguyen; Thomas LaFramboise

doi:10.1016/j.jgg.2020.04.007

Volume 47 Issue 7

Jul. 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(7): 349-359

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Complexities and pitfalls in analyzing and interpreting mitochondrial DNA content in human cancer

doi: 10.1016/j.jgg.2020.04.007

Hieu Nguyen^{a, b},
Thomas LaFramboise^b

a
Vinmec Research Institute of Stem Cell and Gene Technology (VRSIG), 458 Minh Khai, Vinh Tuy, Hai Ba Trung, Hanoi, Viet Nam
b
Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH, 44106, USA

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Corresponding author: E-mail address: TXL80@case.edu (Thomas LaFramboise)
Publish Date: 2020-07-25

Abstract

Abstract

Mutations in the human mitochondrial genome have been observed in all types of human cancer, indicating that mutations might contribute to tumorigenesis, metastasis, recurrence, or drug response. This possibility is appealing because of the known shift from oxidative metabolism to glycolysis, known as the Warburg effect, that occurs in malignancy. Mitochondrial DNA (mtDNA) mutations could either be maternally inherited and predispose to cancer (germ line mutations) or occur sporadically in the mtDNA of specific tissues (tissue- or tumor-specific somatic mutations) and contribute to the tumor initiation and progression process. High-throughput sequencing technologies now enable comprehensive detection of mtDNA variation in tissues and bodily fluids, with the potential to be used as an early detection tool that may impact the treatment of cancer. Here, we discuss insights into the roles of mtDNA mutations in carcinogenesis, highlighting the complexities involved in the analysis and interpretation of mitochondrial genomic content, technical challenges in studying their contribution to pathogenesis, and the value of mtDNA mutations in developing early detection, diagnosis, prognosis, and therapeutic strategies for cancer.
- Mitochondrial DNA,
- Cancer,
- Genetic variation

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References(109)

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