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Mitochondrial DNA deletions in patients with esophagitis, Barrett’s esophagus, esophageal adenocarcinoma and squamous cell carcinoma

Muzaffer Keles
Ibrahim Sahin
Ali Kurt
Ceyda Bozoglu
Gulcin Simsek
Esref Kabalar
Abdulgani Tatar


Background: Esophageal cancer is the eighth most common cancer globally. Esophageal adenocarcinoma (EA) and esophageal squamous-cell carcinoma (ESCC) are the two major types of esophageal cancer with poor prognosis. The mechanisms of the progression of normal esophagus to Barrett’s esophagus (BE) and EA are not fully understood. Mitochondria play a central role in generating energy, apoptosis and cell proliferation. Mutations of mitochondrial DNA (mtDNA) have been identified in many diseases including cancers. Mutations of mtDNA were investigated as a part of carcinogenesis.

Objective: Our objective is to study whether the 5 kb and 7.4 kb mtDNA deletions are important in the progression of normal esophagus to BE and EA.

Method: In this study, the frequency of the 5 kb and 7.4 kb deletions in mtDNA were studied in specimens ranging from nor- mal esophageal tissue to BE and EA and also from ESCC. Seventy six paraffin-embedded tissue samples were studied. Four couple primers were used.

Results: Seventy-six tissue samples were analyzed total. The negative control and the positive control PCR product were detect- ed in all analyzed samples. The fusion PCR products, which represent the presence of the deletions, were not detected in any of the samples.

Conclusion: We can say that, these deletions are not associated with progression of normal esophagus to BE and EA and they do not have an important role in detecting esophagitis, BE, EA, and ESSC.

Keywords: Barrett's esophagus, esophageal cancer, mitochondrial DNA, 4977 bp, 7400 bp.