On 22 August 2010, the Australian Mitochondrial Disease Foundation will hold its annual Stay in Bed Day to raise awareness of a genetic disorder that robs thousands of Australians of their energy
Mutations in mitochondrial DNA (mtDNA) were discovered to cause mitochondrial disease over 20 years ago.1 Initially thought to be a rare group of neurological disorders predominantly affecting children, it is now known that patients with mitochondrial disease can develop a broad range of symptoms (Box) and may present at any age from early in the neonatal period to very late in adulthood. Debilitating or fatal forms of mitochondrial disease are more frequent in children than in adults, but adult patients often have chronic multisystemic manifestations that require symptomatic treatment and regular long-term surveillance to minimise the chance of life-threatening episodes of acute illness.
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- Department of Neurology, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, NSW.
- 1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-719.
- 2. Sue CM, Quigley A, Katsabanis S, et al. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. J Neurol Sci 1998; 161: 36-39.
- 3. Chomyn A, Meola G, Bresolin N, et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991; 11: 2236-2244.
- 4. Petruzzella V, Moraes CT, Sano MC, et al. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 1994; 3: 449-454.
- 5. Hammans SR, Sweeney MG, Hanna MG, et al. The mitochondrial DNA transfer RNALeu(UUR) A→ G(3243) mutation. A clinical and genetic study. Brain 1995; 118 Pt 3: 721-734.
- 6. Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007; 7: 230-233.
- 7. Elliott HR, Samuels DC, Eden JA, et al. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008; 83: 254-260.
- 8. Bitner-Glindzicz M, Pembrey M, Duncan A, et al. Prevalence of mitochondrial 1555A→ G mutation in European children. N Engl J Med 2009; 360: 640-642.
- 9. Vandebona H, Mitchell P, Manwaring N, et al. Prevalence of mitochondrial 1555A→ G mutation in adults of European descent [letter]. N Engl J Med 2009; 360: 642-644.
- 10. Manwaring N, Wang JJ, Mitchell P, Sue CM. Mitochondrial DNA disease prevalence: still underrecognized [letter]? Ann Neurol 2008; 64: 471.