Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma

Japanese Journal of Ophthalmology

Volumn 50, Issue 2, 2006, Pages 128-134

  Inagaki, Yoko ^a   Mashima, Yukihiko ^a   Fuse, Nobuo ^b   Ohtake, Yuichiro ^a   Fujimaki, Takuro ^c   Fukuchi, Takeo ^d  

^a KEIO UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c JUNTENDO UNIVERSITY   (Japan)

^d NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

Author keywords

Leber's hereditary optic neuropathy; Mitochondrial DNA; Mutation; Open angle glaucoma

Indexed keywords

MITOCHONDRIAL DNA; MUTANT PROTEIN;

ADULT; AGED; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLAUCOMA; HETEROPLASMY; HUMAN; INTRAOCULAR PRESSURE; JAPAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RARE DISEASE; RISK FACTOR; SEX DIFFERENCE; SIGNAL TRANSDUCTION; STATISTICAL SIGNIFICANCE;

AGED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; OPTIC ATROPHY, HEREDITARY, LEBER; RISK FACTORS;

EID: 33645723632     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-005-0290-0     Document Type: Article

References (39)

1. HA Quigley 1996 Number of people with glaucoma worldwide Br J Ophthalmol 80 389 393
2. Tajimi Study Group, Japan Glaucoma Society 2004 The prevalence of primary open-angle glaucoma in Japanese: the Tajimi Study Ophthalmology 111 1641 1648
3. RD Fechtner RN Weinreb 1994 Mechanisms of optic nerve damage in primary open-angle glaucoma Surv Ophthalmol 39 23 42
4. N Weisschuh U Schiefer 2003 Progress in the genetics of glaucoma Dev Ophthalmol 37 83 93
5. A Heijl MC Leske B Bengtsson L Hyman B Bengtsson M Hussein Early Manifest Glaucoma Trial Group 2002 Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial Arch Ophthalmol 120 1268 1279
6. SA Lauer J Ackerman J Sunness 1985 Leber's optic atrophy with myopia masquerading as glaucoma: case report Ann Ophthalmol 17 146 148
7. RG Ortiz NJ Newman SV Manoukian 1993 Optic disc cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy Am J Ophthalmol 113 561 566
8. RL Radius AE Maumenee 1987 Optic atrophy and glaucomatous cupping Am J Ophthalmol 85 145 153
9. JD Trobe JS Glaser JC Cassady 1980 Optic atrophy. Differential diagnosis by fundus observation alone Arch Ophthalmol 98 1040 1045
10. NC Weiner NJ Newman S Lessell 1993 Atypical Leber's hereditary optic neuropathy with molecular confirmation Arch Neurol 50 470 473
11. AA Sadun V Carelli S Bose FN Ross-Cisneros P Barboni ET Ahrens 2002 First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve Ophthalmology 109 1085 1091
12. Y Mashima I Kimura Y Yamamoto 2003 Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: comparison with normal tension glaucoma Graefes Arch Clin Exp Ophthalmol 241 75 80
13. NJ Newman 1988 Hereditary optic neuropathies NR Miller NJ Newman Walsh and Hoyt's clinical neuro-ophthalmology 5th ed, Vol. 1. Williams and Wilkins Baltimore 741 773
14. MD Brown DC Wallace 1994 Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy Clin Neurosci 2 138 145
15. DA Mackey RJ Oostra T Rosenberg 1996 Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy Am J Hum Genet 59 481 485
16. AV Fournier KF Damji DL Epstein 2001 Disc excavation in dominant optic atrophy. Differentiation from normal-tension glaucoma Ophthalmology 108 1595 1602
17. C Delettre G Lenaers JM Griffoin 2000 Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat Genet 26 207 210
18. T Aung L Ocaka ND Ebenezer 2002 A major marker for normal-tension glaucoma: association with polymorphisms in the OPA1 gene Hum Genet 110 52 56
19. EJ Brierley PG Griffiths K Weber 1996 Normal respiratory chain function in patients with low-tension glaucoma Arch Ophthalmol 114 142 146
20. D Opial M Boehnke S Tadesse 2001 Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma Graefes Arch Clin Exp Ophthalmol 239 437 440
21. T Lamminen A Majander V Juvonen 1995 A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy Am J Hum Genet 56 1238 1240
22. DR Johns MJ Neufeld 1993 Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Biochem Biophys Res Commun 196 810 815
23. AS Jun MD Brown DC Wallace 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia Proc Natl Acad Sci USA 91 6206 6210
24. ML Valentino P Avoni P Barboni 2002 Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy Ann Neurol 51 774 748
25. B Wissinger D Besch B Baumann 1997 Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy Biochem Biophys Res Commun 234 511 515
26. Y Isashiki N Ohba M Nakagawa S Izumo 2001 Optic neuropathy and cerebellar ataxia associated with a rare missense variation (A14510G) of mitochondrial DNA Br J Ophthalmol 85 1009 1010
27. Y Mashima M Nagano T Funayama 2004 Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology Clin Biochem 37 268 276
28. V Lyamichev AL Mast JG Hall 1999 Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes Nat Biotechnol 17 292 296
29. EM Stone JH Fingert WLM Alward 1997 Identification of a gene that causes primary open-angle glaucoma Science 275 668 670
30. T Rezaie A Child R Hitchings 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin Science 295 1077 1079
31. LM Buono R Foroozan RC Sergott PJ Savino 2002 Is normal-tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis Curr Opin Ophthalmol 13 362 370
32. A Majander T Lamminen V Juvonen 1997 Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases FEBS Lett 412 351 354
33. M Wakakura E Hayashi Y Toyo-oka 1998 Bilateral optic neuropathy with mitochondrial DNA 9804 mutation detected by non-isotopic single-strand conformational polymorphism Neuro-ophthalmol 19 7 12
34. NJ Newman MT Lott DC Wallace 1991 The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation Am J Ophthalmol 111 750 762
35. B Obermaier-Kusser B Lorenz S Schubring 1994 Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy Am J Hum Genet 55 1013 1016
36. Y Mashima K Yamada M Wakakura 1998 Spectrum of pathologic mitochondrial DNA mutation and clinical features in Japanese families with Leber's hereditary optic neuropathy Curr Eye Res 17 403 408
37. NJ Newman 1993 Leber's hereditary optic neuropathy. New genetic considerations Arch Neurol 50 540 548
38. JM Shoffner DC Wallace 1995 Oxidative phosphorylation disease CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease McGraw-Hill New York 1535 1609
39. A Kokaze M Yoshida M Ishikawa 2004 Longevity-associated mitochondrial DNA 5178 A/C polymorphism is associated with intraocular pressure in Japanese men Clin Exp Ophthalmol 32 131 136