Abstract

BackgroundSalivary gland tumor frequency in the head and neck region is quite less and mostly benign. However, pathogenesis is associated with oxidative stress in the mitochondria. Hence, we are aiming to identify single nucleotide polymorphisms (SNP)/single nucleotide variants (SNV) in the mitochondrial DNA D-loop region of salivary gland tumors (SGT). We analyzed 19 biopsied tissue (formalin-fixed paraffin-embedded) tumors, i.e., pleomorphic adenoma-5, mucoepidermoid carcinoma-6, adenoid cystic carcinoma-5, and polymorphous low-grade adenocarcinoma-3. This extracted DNA was amplified to visualize the entire D-loop region of the mitochondrial genome of SGT.ResultsThe three hotspot mutation were noticed at 16,519 (thymine-cytosine) (number = 10), 73 (adenine-guanine) (number = 8), and 195 (thymine-adenine) (number = 4) in the D-loop in salivary gland tumors. We observed novel synonymous mutation in the 195 region of mitochondrial D-loop, which is a novel as per Mitomap (a human mitochondrial genomic database).ConclusionsWe hypothesized that the biological behavior of SGT is majorly dependent upon the stress level at mitochondria in the D-loop region. SNPs noted in mt-DNA should be noted as a pivotal biomarker for the progression or metastasis of SGT in individuals at risk.

Highlights

  • Salivary gland tumor frequency in the head and neck region is quite less and mostly benign

  • These samples consisted of 19 cases of salivary gland tumors, i.e., pleomorphic adenoma (PA)-5, mucoepidermoid carcinoma (MEC)-6, adenoid cystic carcinoma (ACC)-5, and polymorphous low-grade adenocarcinoma (PLGA)-3

  • The Single nucleotide variants (SNVs) i.e. 73A/G was observed in the current study including other cancers like pancreas [9], breast [10], prostate [11], esophageal squamous cell [12], and lung [13], which suggested a vital role in the pathogenesis and biological behavior of any tumors

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Summary

Introduction

Salivary gland tumor frequency in the head and neck region is quite less and mostly benign. We analyzed 19 biopsied tissue (formalin-fixed paraffin-embedded) tumors, i.e., pleomorphic adenoma-5, mucoepidermoid carcinoma-6, adenoid cystic carcinoma-5, and polymorphous low-grade adenocarcinoma-3. This extracted DNA was amplified to visualize the entire D-loop region of the mitochondrial genome of SGT. The pathogenesis of salivary gland tumors (SGT) has a direct link with the reactive oxygen species (ROS) produced during the oxidative phosphorylation process in the mitochondria [2]. The protective mechanism of various antioxidants, i.e., glutathione peroxidase, catalase, superoxide dismutase (SOD), is required by mt-DNA for normal functioning Their effect is neutralized by excessive ROS produced during the growth of a tumor [6]. Numerous polymorphisms or variations are observed in the noncoding areas, i.e., the displacement loop (D-Loop) of mt-DNA [7]

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