Abstract
Mitochondrial bioenergetics require the coordination of two different and independent genomes. Mutations in either genome will affect mitochondrial functionality and produce different sources of cellular stress. Depending on the kind of defect and stress, different tissues and organs will be affected, leading to diverse pathological conditions. There is no curative therapy for mitochondrial diseases, nevertheless, there are strategies described that fight the various stress forms caused by the malfunctioning organelles. Here, we will revise the main kinds of stress generated by mutations in mitochondrial genes and outline several ways of fighting this stress.
Highlights
The diagnostic process of mitochondrial diseases is usually complicated and very long, and in many cases there is a clear suspicion of a mitochondrial defect, the final defect behind the phenotype remains undercover [170]
There may be different mechanisms to cope with mitochondrial stress, which may be tissue specific [73]
Disease models of mitochondrial DNA (mtDNA) replication machinery failure have been linked to imbalance of the cellular dNTPs pool and to increased glutathione biogenesis through de novo serine biogenesis
Summary
Mutations in either genome will affect mitochondrial functionality and produce different sources of cellular stress. A study using cybrids carrying LHON mtDNA mutations showed that the addition of estradiol increased mitochondrial biogenesis and decreased ROS production by enhancing the activity of detoxifying enzymes like SOD2, leading to a decrease in apoptosis [79] (see Table 1).
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