메뉴 건너뛰기




Volumn 131, Issue 4, 2008, Pages

Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 43049168870     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm224     Document Type: Letter
Times cited : (20)

References (49)
  • 2
    • 0031034482 scopus 로고    scopus 로고
    • Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    • Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997; 60: 381-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 381-387
    • Brown, M.D.1    Sun, F.2    Wallace, D.C.3
  • 3
    • 0036785956 scopus 로고    scopus 로고
    • Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy
    • Buhmann C, Gbadamosi J, Heesen C. Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy. Acta Neurol Scand 2002; 106: 236-9.
    • (2002) Acta Neurol Scand , vol.106 , pp. 236-239
    • Buhmann, C.1    Gbadamosi, J.2    Heesen, C.3
  • 4
    • 33645344999 scopus 로고    scopus 로고
    • Haplogroup effects and recombination of mitochondrial DNA: Novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
    • Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, et al. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 2006; 78: 564-74.
    • (2006) Am J Hum Genet , vol.78 , pp. 564-574
    • Carelli, V.1    Achilli, A.2    Valentino, M.L.3    Rengo, C.4    Semino, O.5    Pala, M.6
  • 6
    • 33646803834 scopus 로고    scopus 로고
    • Devic's neuromyelitis optica: A case with mitochondrial DNA mutations
    • Celebisoy N, Akyurekli O, Copur A. Devic's neuromyelitis optica: a case with mitochondrial DNA mutations. Eur Neurol 2006; 55: 93-5.
    • (2006) Eur Neurol , vol.55 , pp. 93-95
    • Celebisoy, N.1    Akyurekli, O.2    Copur, A.3
  • 7
    • 0035182136 scopus 로고    scopus 로고
    • The mitochondrial ND6 gene is a hotspot for mutations that cause Leber's hereditary optic neuropathy
    • Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, et al. The mitochondrial ND6 gene is a hotspot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001; 124: 209-18.
    • (2001) Brain , vol.124 , pp. 209-218
    • Chinnery, P.F.1    Brown, D.T.2    Andrews, R.M.3    Singh-Kler, R.4    Riordan-Eva, P.5    Lindley, J.6
  • 8
    • 0031027322 scopus 로고    scopus 로고
    • Neuromyelitis optica (Devic's syndrome): No association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy
    • Cock H, Mandler R, Ahmed W, Schapira AH. Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. J Neurol Neurosurg Psych 1997; 62: 85-7.
    • (1997) J Neurol Neurosurg Psych , vol.62 , pp. 85-87
    • Cock, H.1    Mandler, R.2    Ahmed, W.3    Schapira, A.H.4
  • 9
    • 4243128354 scopus 로고    scopus 로고
    • The marvellous harmony of the nervous parts': The origins of multiple sclerosis
    • Compston A. 'The marvellous harmony of the nervous parts': the origins of multiple sclerosis. Clin Med 2004; 4: 346-54.
    • (2004) Clin Med , vol.4 , pp. 346-354
    • Compston, A.1
  • 10
    • 34249721428 scopus 로고    scopus 로고
    • Complexity and heterogeneity in demyelinating disease
    • Compston A. Complexity and heterogeneity in demyelinating disease. Brain 2007; 130: 1178-80.
    • (2007) Brain , vol.130 , pp. 1178-1180
    • Compston, A.1
  • 12
    • 33644817756 scopus 로고    scopus 로고
    • Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients
    • Dutta R, McDonough J, Yin X, Peterson J, Chang A, Torres T, et al. Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients. Ann Neurol 2006; 59: 478-89.
    • (2006) Ann Neurol , vol.59 , pp. 478-489
    • Dutta, R.1    McDonough, J.2    Yin, X.3    Peterson, J.4    Chang, A.5    Torres, T.6
  • 13
    • 0027731794 scopus 로고
    • Association of the 11778 mitochondrial DNA mutation and demyelinating disease
    • Flanigan KM, Johns DR. Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993; 43: 2720-2.
    • (1993) Neurology , vol.43 , pp. 2720-2722
    • Flanigan, K.M.1    Johns, D.R.2
  • 15
    • 0026782507 scopus 로고
    • Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Harding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992; 115: 979-89.
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3    Mumford, C.J.4    Kellar-Wood, H.5    Menard, D.6
  • 16
    • 18344366125 scopus 로고    scopus 로고
    • Reduced median network analysis of complete mtDNA coding region sequences for the major African, Asian, and European haplogroups
    • Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson S, et al. Reduced median network analysis of complete mtDNA coding region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002; 70: 1152-71.
    • (2002) Am J Hum Genet , vol.70 , pp. 1152-1171
    • Herrnstadt, C.1    Elson, J.L.2    Fahy, E.3    Preston, G.4    Turnbull, D.M.5    Anderson, S.6
  • 17
    • 0034078672 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy presenting as multiple-sclerosis like illness
    • Horvath R, Abicht A, Shoubridge EA, Karcagi V, Rozsa C, Komoly S, et al. Leber's hereditary optic neuropathy presenting as multiple-sclerosis like illness. J Neurol 2000; 247: 65-7.
    • (2000) J Neurol , vol.247 , pp. 65-67
    • Horvath, R.1    Abicht, A.2    Shoubridge, E.A.3    Karcagi, V.4    Rozsa, C.5    Komoly, S.6
  • 18
    • 34547796899 scopus 로고    scopus 로고
    • Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    • Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 2007; 81: 228-33.
    • (2007) Am J Hum Genet , vol.81 , pp. 228-233
    • Hudson, G.1    Carelli, V.2    Spruijt, L.3    Gerards, M.4    Mowbray, C.5    Achilli, A.6
  • 20
    • 0030048236 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: Clinical, MRI and MRS findings
    • Jansen PH, van der Knaap MS, de Coo IF. Leber's hereditary optic neuropathy with the 11778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings. J Neurol Sci 1996; 135: 176-80.
    • (1996) J Neurol Sci , vol.135 , pp. 176-180
    • Jansen, P.H.1    van der Knaap, M.S.2    de Coo, I.F.3
  • 22
    • 0008844004 scopus 로고
    • Molecular basis of a new mitochondrial disease: Acute neuropathy and myelopathy
    • Johns DR, Hurko O, Attardi G, Griffin JW. Molecular basis of a new mitochondrial disease: acute neuropathy and myelopathy. Ann Neurol 1991; 30: 234.
    • (1991) Ann Neurol , vol.30 , pp. 234
    • Johns, D.R.1    Hurko, O.2    Attardi, G.3    Griffin, J.W.4
  • 23
    • 0032897253 scopus 로고    scopus 로고
    • Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians
    • Kalman B, Li S, Chatterjee D, O'Connor J, Voehl MR, Brown MD, et al. Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians. Acta Neurol Scand 1999; 99: 16-25.
    • (1999) Acta Neurol Scand , vol.99 , pp. 16-25
    • Kalman, B.1    Li, S.2    Chatterjee, D.3    O'Connor, J.4    Voehl, M.R.5    Brown, M.D.6
  • 24
    • 0036231442 scopus 로고    scopus 로고
    • Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis
    • Kalman B, Mandler RN. Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis. Ann Neurol 2002; 51: 661-2.
    • (2002) Ann Neurol , vol.51 , pp. 661-662
    • Kalman, B.1    Mandler, R.N.2
  • 26
    • 0028337837 scopus 로고
    • Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
    • Kellar-Wood H, Robertson N, Govan GG, Compston DA, Harding AE. Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994; 36: 109-12.
    • (1994) Ann Neurol , vol.36 , pp. 109-112
    • Kellar-Wood, H.1    Robertson, N.2    Govan, G.G.3    Compston, D.A.4    Harding, A.E.5
  • 27
    • 0000514888 scopus 로고
    • Leber's disease with symptoms resembling disseminated sclerosis
    • Lees F, Macdonald AM, Turner JW. Leber's disease with symptoms resembling disseminated sclerosis. J Neurol Neurosurg Psych 1964; 27: 415-21.
    • (1964) J Neurol Neurosurg Psych , vol.27 , pp. 415-421
    • Lees, F.1    Macdonald, A.M.2    Turner, J.W.3
  • 30
    • 0029763436 scopus 로고    scopus 로고
    • The human AQP4 gene: Definition of the locus encoding two water channel polypeptides in brain
    • Lu M, Lee MD, Smith BL, Jung JS, Agre P, Verdijk MA, et al. The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. Proc Natl Acad Sci USA 1996; 93: 10908-12.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 10908-10912
    • Lu, M.1    Lee, M.D.2    Smith, B.L.3    Jung, J.S.4    Agre, P.5    Verdijk, M.A.6
  • 32
    • 2342540462 scopus 로고    scopus 로고
    • Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
    • Man PY, Howell N, Mackey DA, Norby S, Rosenberg T, Turnbull DM, et al. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. J Med Genet 2004; 41: e41.
    • (2004) J Med Genet , vol.41
    • Man, P.Y.1    Howell, N.2    Mackey, D.A.3    Norby, S.4    Rosenberg, T.5    Turnbull, D.M.6
  • 33
    • 34249687030 scopus 로고    scopus 로고
    • Heterogeneity of aquaporin-4 autoimmunity and spinal cord lesions in multiple sclerosis in Japanese
    • Matsuoka T, Matsushita T, Kawano Y, Osoegawa M, Ochi H, Ishizu T, et al. Heterogeneity of aquaporin-4 autoimmunity and spinal cord lesions in multiple sclerosis in Japanese. Brain 2007; 130: 1206-23.
    • (2007) Brain , vol.130 , pp. 1206-1223
    • Matsuoka, T.1    Matsushita, T.2    Kawano, Y.3    Osoegawa, M.4    Ochi, H.5    Ishizu, T.6
  • 34
    • 0029759665 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
    • Mayr-Wohlfart U, Paulus C, Henneberg A, Rodel G. Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol Scand 1996; 94: 167-71.
    • (1996) Acta Neurol Scand , vol.94 , pp. 167-171
    • Mayr-Wohlfart, U.1    Paulus, C.2    Henneberg, A.3    Rodel, G.4
  • 35
    • 0001203131 scopus 로고
    • Familial Neuromyelitis Optica: Its occurence in identical twins
    • McAlpine D. Familial Neuromyelitis Optica: its occurence in identical twins. Brain 1938; 61: 430-48.
    • (1938) Brain , vol.61 , pp. 430-448
    • McAlpine, D.1
  • 36
    • 34249711828 scopus 로고    scopus 로고
    • Loss of aquaporin 4 in lesions of neuromyelitis optica: Distinction from multiple sclerosis
    • Misu T, Fujihara K, Kakita A, Konno H, Nakamura M, Watanabe S, et al. Loss of aquaporin 4 in lesions of neuromyelitis optica: distinction from multiple sclerosis. Brain 2007; 130: 1224-34.
    • (2007) Brain , vol.130 , pp. 1224-1234
    • Misu, T.1    Fujihara, K.2    Kakita, A.3    Konno, H.4    Nakamura, M.5    Watanabe, S.6
  • 37
    • 0025881563 scopus 로고
    • The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
    • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991; 111: 750-62.
    • (1991) Am J Ophthalmol , vol.111 , pp. 750-762
    • Newman, N.J.1    Lott, M.T.2    Wallace, D.C.3
  • 38
    • 0028957580 scopus 로고
    • Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation
    • Olsen NK, Hansen AW, Norby S, Edal AL, Jorgensen JR, Rosenberg T. Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand 1995; 91: 326-9.
    • (1995) Acta Neurol Scand , vol.91 , pp. 326-329
    • Olsen, N.K.1    Hansen, A.W.2    Norby, S.3    Edal, A.L.4    Jorgensen, J.R.5    Rosenberg, T.6
  • 41
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-37.
    • (1995) Brain , vol.118 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Da Costa, J.5    Harding, A.E.6
  • 42
    • 34249650146 scopus 로고    scopus 로고
    • Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis
    • Roemer SF, Parisi JE, Lennon VA, Benarroch EE, Lassmann H, Bruck W, et al. Pattern-specific loss of aquaporin-4 immunoreactivity distinguishes neuromyelitis optica from multiple sclerosis. Brain 2007; 130: 1194-205.
    • (2007) Brain , vol.130 , pp. 1194-1205
    • Roemer, S.F.1    Parisi, J.E.2    Lennon, V.A.3    Benarroch, E.E.4    Lassmann, H.5    Bruck, W.6
  • 43
    • 0024361866 scopus 로고
    • The statistical analysis of mitochondrial DNA polymorphisms: Chi 2 and the problem of small samples
    • Roff DA, Bentzen P. The statistical analysis of mitochondrial DNA polymorphisms: chi 2 and the problem of small samples. Mol Biol Evol 1989; 6: 539-45.
    • (1989) Mol Biol Evol , vol.6 , pp. 539-545
    • Roff, D.A.1    Bentzen, P.2
  • 44
    • 33645474357 scopus 로고    scopus 로고
    • The power to detect disease associations with mitochondrial DNA haplogroups
    • Samuels DC, Carothers AD, Horton R, Chinnery PF. The power to detect disease associations with mitochondrial DNA haplogroups. Am J Hum Genet 2006; 78: 713-20.
    • (2006) Am J Hum Genet , vol.78 , pp. 713-720
    • Samuels, D.C.1    Carothers, A.D.2    Horton, R.3    Chinnery, P.F.4
  • 45
    • 0038230469 scopus 로고    scopus 로고
    • Schagger H, Pfeiffer K. Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 2000; 19: 1777-83.
    • Schagger H, Pfeiffer K. Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 2000; 19: 1777-83.
  • 46
    • 34249696440 scopus 로고    scopus 로고
    • Anti-aquaporin-4 antibody is involved in the pathogenesis of NMO: A study on antibody titre
    • Takahashi T, Fujihara K, Nakashima I, Misu T, Miyazawa I, Nakamura M, et al. Anti-aquaporin-4 antibody is involved in the pathogenesis of NMO: a study on antibody titre. Brain 2007; 130: 1235-43.
    • (2007) Brain , vol.130 , pp. 1235-1243
    • Takahashi, T.1    Fujihara, K.2    Nakashima, I.3    Misu, T.4    Miyazawa, I.5    Nakamura, M.6
  • 47
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997; 60: 1107-21.
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3    Sellitto, D.4    Zeviani, M.5    Carrara, F.6
  • 49


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.