Somatic Mutations in Circulating Cell-Free D-Loop Region of Mitochondrial DNA: A Study from North-East India
Journal Title: JOURNAL OF BIOLOGICAL ENGINEERING RESEARCH AND REVIEW - Year 2019, Vol 6, Issue 1
Abstract
Head and neck Squamous cell carcinoma (HNSCC) is highly prevalent in North east India. The widespread use of tobacco exposure is a known risk factor, making mitochondrial DNA (mtDNA) more susceptible to damage by oxidative stress in comparison to nuclear DNA. Mitochondrial dysfunction being a hallmark of cancer, the study aims to evaluate liquid biopsy involving circulating cell-free mitochondrial DNA (cfmtDNA) as an early diagnostic marker by reducing the dependability over tumor tissue biopsy specimen. A total of 50 HNSCC cases reported at Cancer Hospital, Guwahati Medical College from January 2018 to August 2018 were included in this study. Cell-free DNA was isolated using QIAamp Circulating Nucleic Acid Kit. PCR based amplification of mitochondrial D-loop, followed by direct sequencing. Our result indicated the presence of somatic mutations (73(A/G), 93(G/A), 146(T/C) and 207 (G/A)). Polymorphism was also observed in the sequences (263A>G, 275G>A, 318T>C, 16034T>C, 16257C>A and 16519T>C) upon comparison with reference sequence. Analysis of c-tract region showed the presence of an additional cytosine nucleotide at position 309.Identifying somatic mutations in cfmtDNA using liquid biopsy approach will certainly minimize the dependency of clinicians and molecular biologist over the availability of tumor tissue specimens. The identified somatic variations from our study will help in the implementation of preventive measure. Therefore, our study provides an early mtDNA diagnostic marker using liquid biopsy approach.
Authors and Affiliations
Manish Kumar, Mridul Kumar Sarma, Yashmin Choudhury, Sankar Kumar Ghosh, Rosy Mondal
Keywords
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