Table 4. Relative contribution of genetic drift and selection contribute to the segregation of three mtDNA mutations.
Segregational mechanism | m.3243A>G | m.8993T>G | m.14487T>C |
---|---|---|---|
Genetic drift? | + | + | + |
Selection on OXPHOS function?
|
NEGATIVE At 90-100% OXPHOS assembly lost (CI) >80% respiratory defect ATP drops Severely reduced |
POSITIVE Only CV affected 100%: residual activity 20-30% Higher due to inefficient coupling |
NEUTRAL Stability and assembly CI affected OXPHOS capacity preserved No effect |
CI, complex I. CV, complex V.