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Volumn 47, Issue 10, 2006, Pages 4211-4220

Mitochondrial abnormalities in patients with LHON-like optic neuropathies

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIOCHEMICAL COMPOSITION; BLOOD EXAMINATION; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE COURSE; DNA CONTENT; DNA SEQUENCE; ELECTRORETINOGRAM; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC PARAMETERS; HAPLOIDY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRIAL ABNORMALITY; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENE; MITOCHONDRIAL HAPLOGROUP; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; MOLECULAR BIOLOGY; NEUROIMAGING; NEUROOPHTHALMOLOGY; NUCLEOTIDE SEQUENCE; ONSET AGE; OPA1 GENE; OPA3 GENE; OPTIC NERVE DISEASE; PATHOGENICITY; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRORETINOGRAPHY; GENETICS; HAPLOTYPE; METABOLISM; MUTATION; PROSPECTIVE STUDY; VISUAL FIELD;

EID: 33750593212     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-0295     Document Type: Article
Times cited : (87)

References (44)
  • 1
    • 24044520785 scopus 로고    scopus 로고
    • Hereditary optic neuropathies: From the mitochondria to the optic nerve
    • Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Opthalmol. 2005;140:517-523.
    • (2005) Am J Opthalmol , vol.140 , pp. 517-523
    • Newman, N.J.1
  • 2
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace D, Singh G, Lott M, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242:1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.1    Singh, G.2    Lott, M.3
  • 3
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996;59:481-485.
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.J.2    Rosenberg, T.3
  • 4
    • 0036069847 scopus 로고    scopus 로고
    • Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations
    • Fauser S, Luberichs J, Besch D, Leo-Kottler B. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem Biophys Res Commun. 2002;295:342-347.
    • (2002) Biochem Biophys Res Commun , vol.295 , pp. 342-347
    • Fauser, S.1    Luberichs, J.2    Besch, D.3    Leo-Kottler, B.4
  • 5
    • 13444256467 scopus 로고    scopus 로고
    • Brandon MC, Lott M, Nguyen KC, et al. MITOMAP: A human mitochondrial genome database-2004 update. Available at: http://www.mitomap.org. Nucleic Acids Res. 2005;33:D611-D613.
    • Brandon MC, Lott M, Nguyen KC, et al. MITOMAP: A human mitochondrial genome database-2004 update. Available at: http://www.mitomap.org. Nucleic Acids Res. 2005;33:D611-D613.
  • 6
    • 0035038050 scopus 로고    scopus 로고
    • Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population
    • Dogulu CF, Kansu T, Seyrantepe V, et al. Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population. Eye 2001;15:183-188.
    • (2001) Eye , vol.15 , pp. 183-188
    • Dogulu, C.F.1    Kansu, T.2    Seyrantepe, V.3
  • 7
    • 26044459652 scopus 로고    scopus 로고
    • Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin
    • Abu-Amero KK, Bosley TM. Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin. Arch Pathol Lab Med. 2005;129:1295-1298.
    • (2005) Arch Pathol Lab Med , vol.129 , pp. 1295-1298
    • Abu-Amero, K.K.1    Bosley, T.M.2
  • 8
    • 0032519307 scopus 로고    scopus 로고
    • Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome
    • Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 1998;26:967-973.
    • (1998) Nucleic Acids Res , vol.26 , pp. 967-973
    • Rieder, M.J.1    Taylor, S.L.2    Tobe, V.O.3    Nickerson, D.A.4
  • 9
    • 18344366125 scopus 로고    scopus 로고
    • Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
    • Herrnstadt C, Elson JL, Fahy E, et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002;70:1152-1171.
    • (2002) Am J Hum Genet , vol.70 , pp. 1152-1171
    • Herrnstadt, C.1    Elson, J.L.2    Fahy, E.3
  • 10
    • 6344237725 scopus 로고    scopus 로고
    • Ethiopian mitochondrial DNA heritage: Tracking gene flow across and around the gate of tears
    • Kivisild T, Reidla M, Metspalu E, et al. Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears. Am J Hum Genet. 2004;75:752-770.
    • (2004) Am J Hum Genet , vol.75 , pp. 752-770
    • Kivisild, T.1    Reidla, M.2    Metspalu, E.3
  • 12
    • 0035869223 scopus 로고    scopus 로고
    • Prediction of deleterious human alleles
    • Sunyaev S, Ramensky V, Koch I, et al. Prediction of deleterious human alleles. Hum Mol Genet. 2001;10:591-597.
    • (2001) Hum Mol Genet , vol.10 , pp. 591-597
    • Sunyaev, S.1    Ramensky, V.2    Koch, I.3
  • 13
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2002;12:436-446.
    • (2002) Genome Res , vol.12 , pp. 436-446
    • PC, N.1    Henikoff, S.2
  • 14
    • 0030743628 scopus 로고    scopus 로고
    • Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease
    • Fahy E, Nazarbaghi R, Zomorrodi M, et al. Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease. Nucleic Acids Res. 1997;25:3102-3109.
    • (1997) Nucleic Acids Res , vol.25 , pp. 3102-3109
    • Fahy, E.1    Nazarbaghi, R.2    Zomorrodi, M.3
  • 15
    • 3242806054 scopus 로고    scopus 로고
    • Sperm mitochondrial DNA depletion in men with asthenospermia
    • Kao SH, Chao HT, Liu HW, et al. Sperm mitochondrial DNA depletion in men with asthenospermia. Fertil Steril. 2004;82:66-73.
    • (2004) Fertil Steril , vol.82 , pp. 66-73
    • Kao, S.H.1    Chao, H.T.2    Liu, H.W.3
  • 16
    • 0036268633 scopus 로고    scopus 로고
    • A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
    • Thiselton DL, Alexander C, Taanman JW, et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002;43:1715-1724.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 1715-1724
    • Thiselton, D.L.1    Alexander, C.2    Taanman, J.W.3
  • 17
    • 0035205389 scopus 로고    scopus 로고
    • Type III 3-methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
    • Anikster Y, Kleta R, Shaag A, et al. Type III 3-methylglutaconic aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218-24.
    • (2001) Am J Hum Genet , vol.69 , pp. 1218-1224
    • Anikster, Y.1    Kleta, R.2    Shaag, A.3
  • 18
    • 0015815660 scopus 로고
    • Ocular fundus in acute Leber optic neuropathy
    • Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973;90:349-354.
    • (1973) Arch Ophthalmol , vol.90 , pp. 349-354
    • Smith, J.L.1    Hoyt, W.F.2    Susac, J.O.3
  • 19
    • 0347719662 scopus 로고    scopus 로고
    • Visual recovery patterns in children with Leber's hereditary optic neuropathy
    • Acaroglu G, Kansu T, Dogulu CF. Visual recovery patterns in children with Leber's hereditary optic neuropathy. Int Ophthalmol. 2001;24:349-355.
    • (2001) Int Ophthalmol , vol.24 , pp. 349-355
    • Acaroglu, G.1    Kansu, T.2    Dogulu, C.F.3
  • 20
    • 0026554382 scopus 로고
    • Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
    • Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992;12:10-14.
    • (1992) J Clin Neuroophthalmol , vol.12 , pp. 10-14
    • Stone, E.M.1    Newman, N.J.2    Miller, N.R.3
  • 22
    • 0029912105 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: Heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
    • Black GC, Morten K, Laborde A, Poulton J. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Br J Ophthalmol. 1996;80:915-917.
    • (1996) Br J Ophthalmol , vol.80 , pp. 915-917
    • Black, G.C.1    Morten, K.2    Laborde, A.3    Poulton, J.4
  • 23
    • 0036487995 scopus 로고    scopus 로고
    • Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet. 2002;110:130-138.
    • Brown MD, Starikovskaya E, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet. 2002;110:130-138.
  • 24
    • 20044364344 scopus 로고    scopus 로고
    • mtDNA mutations increase tumorigenicity in prostate cancer
    • Petros JA, Baumann AK, Ruiz-Pesini E, et al. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci USA. 2005;102:719-724.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 719-724
    • Petros, J.A.1    Baumann, A.K.2    Ruiz-Pesini, E.3
  • 25
    • 0347600946 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human colonic crypt stem cells
    • Taylor RW, Barron MJ, Borthwick GM, et al. Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest. 2003;112:1351-1360.
    • (2003) J Clin Invest , vol.112 , pp. 1351-1360
    • Taylor, R.W.1    Barron, M.J.2    Borthwick, G.M.3
  • 26
    • 0036724369 scopus 로고    scopus 로고
    • Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation
    • Yen MY, Chen CS, Wang AG, Wei YH. Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation. Br J Ophthalmol. 2002;86:1027-1030.
    • (2002) Br J Ophthalmol , vol.86 , pp. 1027-1030
    • Yen, M.Y.1    Chen, C.S.2    Wang, A.G.3    Wei, Y.H.4
  • 27
    • 0033137096 scopus 로고    scopus 로고
    • Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Cock HR, Cooper JM, Schapira AH. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J Neurol Sci. 1999;165:10-17.
    • (1999) J Neurol Sci , vol.165 , pp. 10-17
    • Cock, H.R.1    Cooper, J.M.2    Schapira, A.H.3
  • 28
    • 0034704125 scopus 로고    scopus 로고
    • Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Brown MD, Trounce IA, Jun AS, et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem. 2000;275:39831-39836.
    • (2000) J Biol Chem , vol.275 , pp. 39831-39836
    • Brown, M.D.1    Trounce, I.A.2    Jun, A.S.3
  • 29
    • 0033028388 scopus 로고    scopus 로고
    • Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
    • Carelli V, Ghelli A, Bucchi L, et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol. 1999;45:320-328.
    • (1999) Ann Neurol , vol.45 , pp. 320-328
    • Carelli, V.1    Ghelli, A.2    Bucchi, L.3
  • 30
    • 0041784445 scopus 로고    scopus 로고
    • Howell N. LHON and other optic nerve atrophies: the mitochondrial connection. Dev Ophthalmol. 2003;37:94-108.
    • Howell N. LHON and other optic nerve atrophies: the mitochondrial connection. Dev Ophthalmol. 2003;37:94-108.
  • 31
    • 0942268749 scopus 로고    scopus 로고
    • The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head
    • Barron MJ, Griffiths P, Turnbull DM, et al. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol. 2004;88:286-290.
    • (2004) Br J Ophthalmol , vol.88 , pp. 286-290
    • Barron, M.J.1    Griffiths, P.2    Turnbull, D.M.3
  • 32
    • 4544298249 scopus 로고    scopus 로고
    • Mitochondrial mechanisms of neural cell apoptosis
    • Polster BM, Fiskum G. Mitochondrial mechanisms of neural cell apoptosis. J Neurochem. 2004;90:1281-1289.
    • (2004) J Neurochem , vol.90 , pp. 1281-1289
    • Polster, B.M.1    Fiskum, G.2
  • 33
    • 1342305494 scopus 로고    scopus 로고
    • Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent
    • Zanna C, Ghelli A, Porcelli AM, et al. Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent. Ann NY Acad Sci. 2003;1010:213-217.
    • (2003) Ann NY Acad Sci , vol.1010 , pp. 213-217
    • Zanna, C.1    Ghelli, A.2    Porcelli, A.M.3
  • 35
    • 13444271923 scopus 로고    scopus 로고
    • Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress
    • Lee HC, Wei YH. Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress. Int J Biochem Cell Biol. 2005;37:822-834.
    • (2005) Int J Biochem Cell Biol , vol.37 , pp. 822-834
    • Lee, H.C.1    Wei, Y.H.2
  • 36
    • 0036692491 scopus 로고    scopus 로고
    • Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
    • Horvath J, Horvath R, Karcagi V, et al. Sequence analysis of Hungarian LHON patients not carrying the common primary mutations. J Inherit Metab Dis. 2002;25:323-324.
    • (2002) J Inherit Metab Dis , vol.25 , pp. 323-324
    • Horvath, J.1    Horvath, R.2    Karcagi, V.3
  • 38
    • 0037406049 scopus 로고    scopus 로고
    • Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    • Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 2003;19:257-262.
    • (2003) Trends Genet , vol.19 , pp. 257-262
    • Carelli, V.1    Giordano, C.2    d'Amati, G.3
  • 39
    • 0032443810 scopus 로고    scopus 로고
    • Acquired mitochondrial impairment as a cause of optic nerve disease
    • Sadun A. Acquired mitochondrial impairment as a cause of optic nerve disease. Trans Am Ophthalmol Soc. 1998;96:881-923.
    • (1998) Trans Am Ophthalmol Soc , vol.96 , pp. 881-923
    • Sadun, A.1
  • 41
    • 0029883737 scopus 로고    scopus 로고
    • Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
    • Nikoskelainen EK, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996;103:504-514.
    • (1996) Ophthalmology , vol.103 , pp. 504-514
    • Nikoskelainen, E.K.1    Huoponen, K.2    Juvonen, V.3
  • 42
    • 0030786039 scopus 로고    scopus 로고
    • mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy
    • Lamminen T, Huoponen K, Sistonen P, et al. mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy. Eur J Hum Genet. 1997;5:271-279.
    • (1997) Eur J Hum Genet , vol.5 , pp. 271-279
    • Lamminen, T.1    Huoponen, K.2    Sistonen, P.3
  • 43
    • 0037322524 scopus 로고    scopus 로고
    • The epidemiology of Leber hereditary optic neuropathy in the North East of England
    • Man PY, Griffiths PG, Brown DT, et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet. 2003;72:333-339.
    • (2003) Am J Hum Genet , vol.72 , pp. 333-339
    • Man, P.Y.1    Griffiths, P.G.2    Brown, D.T.3
  • 44
    • 0026989344 scopus 로고
    • Leber hereditary optic neuropathy in Australia
    • Mackey DA, Buttery RG. Leber hereditary optic neuropathy in Australia. Aust N Z J Ophthalmol. 1992;20:177-184.
    • (1992) Aust N Z J Ophthalmol , vol.20 , pp. 177-184
    • Mackey, D.A.1    Buttery, R.G.2


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