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

Content Provider	Springer Nature Link
Author	Chattopadhyay, Esita Sarkar, Navonil Singh, Richa Ray, Anindita Roy, Roshni Paul, Ranjan Rashmi Pal, Mousumi Ghose, Sandip Ghosh, Subhrendu Kabiraj, Debajyoti Banerjee, Raja Roy, Bidyut
Copyright Year	2016
Abstract	Several studies reported that mtDNA mutations may play important roles in carcinogenesis although the mechanism is not clear yet. Most of the studies compared mtDNA sequences in a tumor with those in normal tissues from different individuals ignoring inter-individual variations. In this study, 271 SNPs, 7 novel SNPs (or SNVs), and 15 somatic mutations were detected in mtDNA of 8 oral cancer tissues with respect to reference (rCRS) and adjacent normal tissues, respectively, using Ion PGM next generation sequencing method. Most of the sequence variations (76 SNPs and 1 somatic) are present in D-loop region followed by CyB (36 SNPs), ATP6 (24 SNPs), ND5 (17 SNPs and 5 somatic), ND4 (18 coding and 2 somatic) and other non-coding and coding DNA sequences. A total of 53 and 8 non-synonymous SNPs and somatic mutations, respectively, were detected in tumor tissues and some of these variations may have deleterious effects on the protein function as predicted by bioinformatic analysis. Moreover, significantly low mtDNA contents and expression of several mitochondrial genes in tumor compared to adjacent normal tissues may have also affected mitochondrial functions. Taken together, this study suggests that mtDNA mutations as well as low expression of mtDNA coded genes may play important roles in tumor growth. Although the sample size is low, an important aspect of the study is the use of adjacent control tissues to find out somatic mutations and a change in the expression of mitochondrial genes, to rule out inter-individual and inter-tissue variations which are important issues in the study of mitochondrial genomics.
Starting Page	11861
Ending Page	11871
Page Count	11
File Format	PDF
ISSN	10104283
Journal	Tumor Biology
Volume Number	37
Issue Number	9
e-ISSN	14230380
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-04-07
Publisher Place	Dordrecht
Access Restriction	Subscribed
Subject Keyword	mtDNA Next generation sequencing Mutation Expression Oral cancer tissue Cancer Research
Content Type	Text
Resource Type	Article
Subject	Medicine Cancer Research

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