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Agresti et al. J Transl Genet Genom 2018;2:9 I http://dx.doi.org/10.20517/jtgg.2018.05 Page 5 of 11

Table 2. Classified mitochondrial diseases according to the United Mitochondrial Disease Foundation [26]
Mitochondrial diseases
Progressive infantile poliodystrophy (Alpers disease)
Autosomal dominant optic atrophy (ADOA)
Barth syndrome/lethal infantile cardiomyopathy (LIC)
Beta-oxidation defects
Carnitine-acyl-carnitine deficiency
Carnitine deficiency
Cerebral creatine deficiency syndromes (CCDS)
Co-enzyme Q10 deficiency
NADH dehydrogenase (NADH-CoQ reductase) deficiency (complex I deficiency)
Succinate dehydrogenase deficiency (complex II deficiency)
Ubiquinone-cytochrome c oxidoreductase deficiency (complex III deficiency)
Cytochrome c oxidase deficiency (complex IV deficiency/COX deficiency)
ATP synthase deficiency (complex V deficiency)
Chronic progressive external ophthalmoplegia syndrome (CPEO)
CPT I deficiency
CPT II deficiency
Kearns-Sayre syndrome (KSS)
Lactic acidosis
Leber’s hereditary optic neuropathy (LHON)
LBSL - leukodystrophy
Long-chain acyl-CoA dehydrongenase deficiency (LCAD)
LCHAD
Subacute necrotizing encephalomyelopathy (Leigh disease or syndrome)
Luft disease
Multiple acyl-CoA dehydrogenase deficiency (MAD/glutaric aciduria type II)
Medium-chain acyl-CoA dehydrongenase deficiency (MCAD)
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS)
Myoclonic epilepsy and ragged-red fiber disease (MERRF)
Mitochondrial recessive ataxia syndrome (MIRAS)
Mitochondrial cytopathy
Mitochondrial DNA depletion
Mitochondrial encephalopathy
Myoneurogastointestinal disorder and encephalopathy (MNGIE)
Neuropathy, ataxia, and retinitis pigmentosa (NARP)
Pearson syndrome
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency (PDCD/PDH)
POLG2 mutations
Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
Encephalopathy and possibly liver disease or cardiomyopathy (SCHAD)
Very long-chain acyl-CoA dehydrongenase deficiency (VLCAD)

mitochondrial DNA gene mutation(s), since mitochondria rely heavily on the interaction between these
genomes . As previously mentioned, the thirteen polypeptides mtDNA encodes for are respiratory chain
[27]
subunits and, in addition, these complexes contain several subunits encoded by the nuclear genome . Aside
[25]
from their participation as integral members of oxidative phosphorylation, the gene products encoded by
the nuclear genome dictate specific mitochondrial functions . Mitochondrial diseases can participate in
[25]
numerous genetic disorders and partake in the aging process .
[27]

Of these mutations, upwards of 250 pathogenic mutations and rearrangements have been identified in a
multitude of diseases affecting both central nervous and muscle systems . After collecting and analyzing
[28]
epidemiological data regarding both childhood and adult mitochondrial diseases, Schaefer et al. suggests
[29]
the lowest prevalence of mitochondrial disease is approximately 1 in 5000. However, mitochondrial diseases
could be far less obscure; accurate identification is limited by: disease onset related to patient age, the dual
role and interplay of nuclear and mitochondrial genomes, symptoms similar to other diseases, as well as a