Genome-wide mitochondrial DNA sequence variations and lower expression of OXPHOS genes predict mitochondrial dysfunction in oral cancer tissue

• DOI: 10.1007/s13277-016-5026-x
• Publication Date: 2016-04-07T19:51:11Z
• Authors: Esita Chattopadhyay; Navonil De Sarkar; Richa Singh; Anindita Ray; Roshni Roy; Ranjan Rashmi Paul; Mousumi Pal; Sandip Ghose; Subhrendu Ghosh; Debajyoti Kabiraj; Raja Banerjee; Bidyut Roy
• Keywords: Coding region

Several studies reported that mtDNA mutations may play important roles in carcinogenesis although the mechanism is not clear yet. Most of compared sequences a tumor with those normal tissues from different individuals ignoring inter-individual variations. In this study, 271 SNPs, 7 novel SNPs (or SNVs), and 15 somatic were detected 8 oral cancer respect to reference (rCRS) adjacent tissues, respectively, using Ion PGM next generation sequencing method. sequence variations (76 1 somatic) are present D-loop region followed by CyB (36 SNPs), ATP6 (24 ND5 (17 5 somatic), ND4 (18 coding 2 other non-coding DNA sequences. A total 53 non-synonymous mutations, some these have deleterious effects on protein function as predicted bioinformatic analysis. Moreover, significantly low contents expression several mitochondrial genes also affected functions. Taken together, study suggests well coded growth. Although sample size low, an aspect use control find out change genes, rule inter-tissue which issues genomics.