Mitochondrial DNA variations in tongue squamous cell carcinoma

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