Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy

Molecular Vision

Volumn 16, Issue , 2010, Pages 2760-2764

  Hudson, Gavin ^a   Yu Wai Man, Patrick ^a,b   Griffiths, Phillip G ^b   Caporali, Leonardo ^c   Salomao, Solange S ^d   Berezovsky, Adriana ^d   Carelli, Valerio ^c   Zeviani, Massimo ^e   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; OPTIC ATROPHY 1; PROTEIN FSPBI; PROTEIN RSAI; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ARTICLE; CHROMATOGRAPHY; COHORT ANALYSIS; CONGENITAL BLINDNESS; CONTROLLED STUDY; FAMILY STUDY; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPTIC ATROPHY 1 GENE; PENETRANCE; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; GENE FREQUENCY; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HUMANS; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78650799623     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004; 23:53-89. [PMID: 14766317]
2. Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 2001; 104:331-8. [PMID: 11754070]
3. Bu XD, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: Evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci USA 1991; 88:8198-202. [PMID: 1896469]
4. Chen JD, Denton MJ. X-chromosomal gene in Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991; 49:692-3. [PMID: 1882847]
5. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995; 57:77-86. [PMID: 7611298]
6. Hudson G, Keers S, Yu Wai Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 2005; 77:1086-91. [PMID: 16380918]
7. Phasukkijwatana N, Kunhapan B, Stankovich J, Chuenkongkaew WL, Thomson R, Thornton T, Bahlo M, Mushiroda T, Nakamura Y, Mahasirimongkol S, Tun AW, Srisawat C, Limwongse C, Peerapittayamongkol C, Sura T, Suthammarak W, Lertrit P. Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand. Hum Genet 2010; 128:39-49. [PMID: 20407791]
8. Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol 2004; 56:719-23. [PMID: 15505825]
9. Frezza C, Cipolat S, Martins de Brito O, Micaroni M, Beznoussenko GV, Rudka T, Bartoli D, Polishuck RS, Danial NN, De Strooper B, Scorrano L. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 2006; 126:177-89. [PMID: 16839885]
10. Olichon A, Landes T, Arnaune-Pelloquin L, Emorine LJ, Mils V, Guichet A, Delettre C, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 2007; 211:423-30. [PMID: 17167772]
11. Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 1997; 115:95-9. [PMID: 9006432]
12. Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26:207-10. [PMID: 11017079]
13. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26:211-5. [PMID: 11017080]
14. Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta 2009; 1787:518-28. [PMID: 19268652]
15. Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS. Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet 2002; 110:513-4. [PMID: 12073024]
16. Yu-Wai-Man P, Stewart JD, Hudson G, Andrews RM, Griffiths PG, Birch MK, Chinnery PF. OPA1 increases the risk of normal but not high tension glaucoma. J Med Genet 2010; 47:120-5. [PMID: 19581274]
17. Abu-Amero KK, Jaber M, Hellani A, Bosley TM. Genomewide expression profile of LHON patients with the 11778 mutation. Br J Ophthalmol 2010; 94:256-9. [PMID: 19726426]
18. Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PY, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007; 81:228-33. [PMID: 17668373]
19. Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet 2008; 29:17-24. [PMID: 18363168]
20. Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 2001; 29:E74-4. [PMID: 11470889]
21. Pertea M, Lin X, Salzberg SL. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 2001; 29:1185-90. [PMID: 11222768]
22. Ferré M, Amati-Bonneau P, Tourmen Y, Malthiery Y, Reynier P. eOPA1: an online database for OPA1 mutations. Hum Mutat 2005; 25:423-8. [PMID: 15832306]
23. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29:308-11. [PMID: 11125122]
24. Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Geneenvironment interactions in Leber hereditary optic neuropathy. Brain 2009; 132:2317-26. [PMID: 19525327]