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 H EberwinePublished in: BMC 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.