Mitochondrial disease: Recognising more than just the tip of the iceberg

Medical Journal of Australia

Volumn 193, Issue 4, 2010, Pages 195-196

  Sue, Carolyn M ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

AUSTRALIA; AWARENESS; BLOATING; CARDIOMYOPATHY; CONSTIPATION; DIABETES MELLITUS; DIAGNOSTIC PROCEDURE; DYSPHAGIA; EDITORIAL; EPILEPSY; EXTERNAL OPHTHALMOPLEGIA; FAILURE TO THRIVE; FAMILY HISTORY; GENE MUTATION; GENE SEGREGATION; HEART ARRHYTHMIA; HETEROPLASMY; HUMAN; HUMAN GENOME; HYPERTROPHIC CARDIOMYOPATHY; INTESTINE OBSTRUCTION; KIDNEY TUBULE ACIDOSIS; LIVER FAILURE; MELAS SYNDROME; MIGRAINE; MITOCHONDRIAL DNA DISORDER; MUSCLE WEAKNESS; MYOPATHY; ONSET AGE; PERCEPTION DEAFNESS; PIGMENT EPITHELIUM; PTOSIS; VOMITING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; MUTATION; PREVALENCE;

AUSTRALIA; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; PREVALENCE;

EID: 77956627297     PISSN: 0025729X     EISSN: 13265377     Source Type: Journal    
DOI: 10.5694/j.1326-5377.2010.tb03864.x     Document Type: Editorial

References (10)

1. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-719. (Pubitemid 18062238)
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. (Pubitemid 28559181)
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. (Pubitemid 24083906)
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. (Pubitemid 46420125)
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.