Causes Of Mitochondrial Diseases

Mitochondria are vital organelles found within all cells of organisms excluding red blood cells; they are specialised compartments, and therefore possess their own DNA. By definition the mitochondria are the ‘primary energy-generating system in most eukaryotic cells’ (Chan, 2006). They are often described as the ‘powerhouse’ of cells, providing 90% of the energy required by the body for vital processes and reactions (Pike and Brown, 1975). The circular mitochondrial genome (mtDNA) consists of only 16,569 base pairs (2) but is present in multiple copies in all cells (Lightowlers, Taylor and Turnbull, 2015).

The cause of mitochondrial diseases are mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) cause disorders which disturbs respiratory function of the mitochondria. These mutations can be genetically inherited or develop at random, leading to a change in the mitochondrial protein structure. These changes manifest as different diseases. Some mitochondrial disorders may affect a sole organ, for example Leber hereditary optic neuropathy (LHON) and others affect multiple organs.

Other examples of mitochondrial disease include Leigh syndrome, a brain disorder that is one of the most prevalent mitochondrial diseases in children (Lake et al., 2015)

Mitochondrial disease are characterised by symptoms such as exercise intolerance, diabetes mellitus (Maassen et al., 2004), liver disease, pain and muscle weakness and central nervous symptoms such as loss of motor