Research is being conducted on the relationship between nuclear genome-wide associations and mitochondrial heteroplasmy. Studies are examining the molecular pathogenesis and potential therapeutic advances related to mitochondrial diseases, as well as the analysis of mitochondrial dna heteroplasmy in various contexts. The scope of this research encompasses multiple fields, including epigenome-wide association studies, single-cell multi-omic analysis, and the investigation of mitochondrial genomic integrity in health and disease.