While previous studies demonstrate that mtDNA-CN is a biomarker of mitochondrial activity associated with various diseases, evidence suggests that it may also play a direct and causative role in human health and disease.
Forle, in cases of mtDNA depletion syndrome, wherein rare defects in nuclear genes responsible for replicating and/or maintainingNA lead to deficient mtDNA-CN.
- So far, 19 genes have been reported to cause mtDNA depletion .
- In addition to these rare monogenic syndromes,
- the importance of common genetic variation
Regulating mtDNA-CN is an active area of research with approximately 50 common loci identified so far