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Mitochondrial DNA diseases
Strange acronyms for strange disorders
Genetic defects of the human mitochondrial genome were first described in 1988
MELAS (Mitochondrial Encephalomyopathy; Lactic Acidosis; Stroke) – TRNL1 (a tRNA gene) mutation
MERRF (Myoclonic Epilepsy; Ragged Red Fibers) – 8344A>G TRNK (a tRNA gene) mutation
NARP (Neuropathy; Ataxia; Retinitis Pigmentosa)
– 8993T>G MTATP6 (subunit 6 of mitochondrial ATP synthase)
LHON (Leber’s Hereditary Optic Neuropathy)
– 11778G>A 50% males; 10% females affected: Homoplasmic
Holt IJ, Harding AE, Morgan-Hughes JA. 1988. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717–19
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. 2009. Mitochondrial DNA mutations and human disease. Biochim. Biophys. Acta 1797:113–28
Mitochondrial disease mutations
HVR
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. 2009. Mitochondrial DNA mutations and human disease. Biochim. Biophys. Acta 1797:113– 28
Adapted from Mitomap org
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