Mitochondrial intergenic COII/tRNA^Lys 9-bp deletion, a biomarker for hepatocellular carcinoma?

Abstract

The COII/tRNA^Lys intergenic 9-bp deletion is one of the most commonly studied human mitochondrial DNA (mtDNA) polymorphisms. It consists of the loss of one of two tandemly repeated copies of the sequence CCCCCTCTA from a non-coding region located between cytochrome oxidase II (COII) and tRNA^Lys gene. Most recently, case-control studies have shown a positive association between this deletion with hepatocellular cancer. In this study, we first performed a detailed analysis between this deletion and clinical diseases; moreover, we took the phylogenetic approach to examine the pathogenicity status of 9-bp deletion.

• COII/tRNA^Lys intergenic 9-bp deletion
• mitochondrial DNA
• pathogenicity
• phylogenetic analysis

Declaration of interest

The authors report no conflicts of interest.