Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivo - PubMed
3 hours ago
- #mitochondrial DNA
- #heteroplasmy dynamics
- #developmental bottlenecks
- Single-molecule mitochondrial DNA imaging (mtDNA-smFISH) enables in situ visualization and measurement of mtDNA and heteroplasmy at single-cell resolution.
- A somatic mtDNA bottleneck during neurogenesis in Drosophila amplifies heteroplasmy variability between neurons, increasing risk of high mutation loads in individual neurons.
- Purifying selection favors wild-type over pathogenic mtDNA during both neurogenesis and oogenesis, mitigating the effects of deleterious variants.
- Developmental bottlenecks and selection jointly shape the transmission of heteroplasmic mtDNA mutations, influencing mitochondrial disease pathogenesis.