Cell-free mitochondrial DNA (cf-mtDNA) in human body fluids: molecular characteristics, release mechanisms, and clinical translation—an updated review

Since its discovery, cell-free mitochondrial DNA (cf-mtDNA) has emerged as a promising non-invasive molecular marker for disease diagnosis and prognosis. However, the biological origins of cf-mtDNA remain incompletely understood, which limits its clinical applications. This review comprehensively summarizes the molecular characteristics, release mechanisms, and diagnostic applications of cf-mtDNA. By discussing standardization of cf-mtDNA detection methods, this review aims to provide theoretical foundations for clinical translation of this emerging biomarker.