Mutational profiling of mtDNA control region reveals tumor-specific evolutionary selection involved in mitochondrial dysfunction.

ABSTRACT:

Background

Mitochondrial DNA (mtDNA) mutations alter mitochondrial function in oxidative metabolism and play an important role in tumorigenesis. A series of studies have demonstrated that the mtDNA control region (mtCTR), which is essential for mtDNA replication and transcription, represents a mutational hotspot in human tumors. However, a comprehensive pan-cancer evolutionary pattern analysis of mtCTR mutations is urgently needed.

Methods

We generated a comprehensive combined dataset containing 10026 mtDNA somatic mutations from 4664 patients, covering 20 tumor types based on public and private next-generation sequencing data.

Findings

Our results demonstrated a significantly higher and much more variable mutation rate in mtCTR than in the coding region across differ

SUBMITTER: Ji X 

PROVIDER: S-EPMC9121266 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature