Single-cell mitochondrial DNA sequencing: Methodologies and applications

Abstract

Mitochondria play a pivotal role in cellular energetics, metabolism, and various regulatory processes. Their dysregulation is implicated in numerous diseases. Traditional population-level mitochondrial DNA (mtDNA) sequencing often obscures crucial information from individual cells, leading to a limited understanding of mitochondrial genetics. In contrast, single-cell mtDNA sequencing enables the precise detection and characterization of mtDNA mutations at the individual cell level, providing a nuanced view of mitochondrial heteroplasmy and its dynamics. This review aims to provide a comprehensive overview of current single-cell mtDNA sequencing methodologies and their applications in advancing our understanding of mitochondrial genetics.