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Table 1 Common mutations in genes or gene groups resulting in mitochondrial-associated metabolic diseases

From: Mitochondrial-associated metabolic disorders: foundations, pathologies and recent progress

Gene(s) Location Product Function Phenotype Associated diseases
COQ2, COQ9, PDSS1/2, ADCK3 Nuclear Coenzyme Q10 (CoQ) Required for synthesis of CoQ; CoQ is an essential electron shuttle, acts as antioxidant, cofactor of pyrimidine synthesis Decreased ETC activity; Skeletal muscle breakdown CoQ deficiency
ETC subunits Mitochondrial Mitochondrial respiratory complex subunits Oxidative phosphorylation Respiratory complex deficiency Mitochondrial myopathy; Lactic acidosis; MELAS (complex I)
ETFDH Nuclear Electron-transferring-flavoprotein dehydrogenase Required for delivering electrons to complex III; derived from fatty acid and amino acid oxidation Accumulation of toxic intermediates from fatty acid and amino acid oxidation; Decreased ETC efficiency Symptoms of glutaric acidemia type 2
POLG, POLG2 Nuclear Mitochondrial DNA polymerase gamma mtDNA replication mtDNA depletion mtDNA depletion syndrome; Symptoms of MNGIE
12S rRNA, 16S rRNA Mitochondrial Mitochondrial ribosomal RNAs Required for synthesis of mtDNA-encoded proteins Respiratory complex deficiency Mitochondrial myopathy; Lactic acidosis
tRNAs Mitochondrial Mitochondrial transfer RNAs Required for synthesis of mtDNA-encoded proteins Respiratory complex deficiency Mitochondrial myopathy; Lactic acidosis; MELAS
TYMP Nuclear Thymidine phosphorylase Required for processing thymidine and deoxyuridine into thymine and uracil Accumulation of thymidine and deoxyuridine; Imbalance in mitochondrial (d)NTP pool; Impaired mtDNA replication and transcription MNGIE