OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

Brain

Volumn 134, Issue 4, 2011, Pages

  Yu Wai Man, Patrick ^a,b,c   Trenell, Michael I ^a   Hollingsworth, Kieren G ^a   Griffiths, Philip G ^a,b   Chinnery, Patrick F ^a,c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AUTOSOMAL DOMINANT OPTIC ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; INTRON; LETTER; MALE; MUSCLE BIOPSY; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; RNA SPLICING;

ADULT; AGED; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT;

EID: 79953659917     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq288     Document Type: Letter

References (17)

1. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A, et al. OPA1 mutations induce mitochondrial DNA instability, optic atrophy plus phenotypes. Brain 2008; 131: 338-51. (Pubitemid 351197609)
2. Aure K, Fayet G, Lacene E, Romero NB, Lombes A. Apoptosis in mito-chondrial myopathies is linked to mitochondrial proliferation. Brain 2006; 129: 1249-59.
3. Barbiroli B, Iotti S, Lodi R. Aspects of human bioenergetics as studied in vivo by magnetic resonance spectroscopy. Biochimie 1998; 80: 847-53.
4. Hollingsworth KG, Newton JL, Taylor R, McDonald C, Palmer JM, Blamire AM, et al. Pilot study of peripheral muscle function in primary biliary cirrhosis: potential implications for fatigue pathogenesis. Clin Gastroenterol Hepatol 2008; 6: 1041-8.
5. Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He LP, Schaefer AM, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mito-chondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008; 131: 329-37. (Pubitemid 351197604)
6. Lenaers G, Reynier P, ElAchouri G, Soukkarieh C, Olichon A, Belenguer P, et al. OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol 2009; 41: 1866-74.
7. Lodi R, Carelli V, Cortelli P, Lotti S, Valentino ML, Barboni P, et al. Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiat 2002; 72: 805-7. (Pubitemid 34557030)
8. Lodi R, Taylor DJ, Tabrizi SJ, Kumar S, Sweeney M, Wood NW, et al. In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by P-31 magnetic resonance spectroscopy. Annal Neurol 1997; 42: 573-9. (Pubitemid 27439019)
9. Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, et al. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Annal Neurol 2004; 56: 719-23. (Pubitemid 39540754)
10. Naressi A, Couturier C, Castang I, de Beer R, Graveron-Demilly D. Java-based graphical user interface for MRUI, a software package for quantitation of in vivo/medical magnetic resonance spectroscopy signals. Comput Biol Med 2001; 31: 269-86. (Pubitemid 32378728)
11. Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004; 14: 237-45. (Pubitemid 38326844)
12. Trenell MI, Sue CM, Kemp GJ, Sachinwalla T, Thompson CH. Aerobic exercise and muscle metabolism in patients with mitochondrial myop-athy. Muscle Nerve 2006; 33: 524-31.
13. Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology 2010a; 117: 1538.
14. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010b; 133: 771-86.
15. Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mito-chondrial optic neuropathies. J Med Gen 2009; 46: 145-58.
16. Yu-Wai-Man P, Sitarz KS, Samuels DC, Griffiths PG, Reeve AK, Bindoff LA, et al. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Hum Mol Genet 2010c; 19: 3043-52.
17. Zeviani M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 2008; 131: 314-7. (Pubitemid 351197626)