Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons.
Parnika S KadamZijian YangYoutao LuHua ZhuYasemin AtiyasNishal ShahStephen FisherErik NordgrenJunhyong KimDavid IssadoreJames EberwinePublished in: bioRxiv : the preprint server for biology (2024)
This study suggests that segregation as well as clonal expansion of mt-SNVs is specific to individual genomic loci, which is important foundational data in understanding of heteroplasmy and disease thresholds for mutation of pathogenic variants.