Mitochondrial DNA variations in tongue squamous cell carcinoma

Shu,Hong-Ying; Li,Hong-Chao; Xie,Wan-Qin; Ni,Bin; Zhou,Hai-Yan

doi:10.3892/br.2018.1167

Mitochondrial DNA variations in tongue squamous cell carcinoma

Authors:
- Hong-Ying Shu
- Hong-Chao Li
- Wan-Qin Xie
- Bin Ni
- Hai-Yan Zhou
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Affiliations: Key Laboratory of Genetics and Birth Health of Hunan Province, Family Planning Institute of Hunan Province, Changsha, Hunan 410126, P.R. China, Department of Head and Neck Cancer (Oncoplastic Surgery), Hunan Cancer Hospital, Changsha, Hunan 410013, P.R. China
Published online on: November 9, 2018 https://doi.org/10.3892/br.2018.1167
Pages: 23-28

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Abstract

Tongue squamous cell carcinoma (TSCC) is the most common type of oral carcinoma. Mitochondrial DNA (mtDNA) is a circular DNA molecule of 16,569 bp, which functionally encompasses a regulatory non‑coding region (D‑loop) and 37 encoding genes that correspond to 13 subunits of respiratory chain complexes (I, III, IV and V), 22 transfer RNAs and 2 ribosomal (r)RNAs. Recently, mtDNA has been implicated as a mutation hotspot in various tumors. However, to our knowledge mtDNA alteration in TSCC has not been investigated to date. In the present study, the mitochondrial genomes of tongue carcinoma, adjacent non‑cancerous tissue and peripheral blood samples from 8 patients with TSCC were sequenced and aligned with the revised Cambridge Reference Sequence. Overall, only one synonymous mutation, which mapped to the NADH:ubiquinone oxidoreductase core subunit 5 gene, was observed in the tongue carcinoma sample from a single patient. A further 21 polymorphisms were identified, including six in the non‑coding region (D‑loop), five in Complex I, three in Complex III, two in Complex Ⅳ, two in Complex V and three in rRNA. In addition, mitochondrial microsatellite instability (mtMSI) was detected in 2/8 tongue carcinoma samples, and localized in the D310 region. These variations, particularly the polymorphisms and mtMSI, imply that the mitochondrial genome may be a hotspot of genome alteration in tongue cancer. Further investigation is expected to reveal the role of mtDNA alteration in TSCC development, as well as its clinical implications.

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