메뉴 건너뛰기




Volumn 28, Issue 3, 2013, Pages 554-559

Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?

Author keywords

gene therapy; germ line; mitochondria; mtDNA; prenatal diagnosis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84874301669     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des439     Document Type: Article
Times cited : (34)

References (54)
  • 1
    • 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 GCM, 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.M.1    Morten, K.2    Laborde, A.3    Poulton, J.4
  • 4
    • 84856202957 scopus 로고    scopus 로고
    • UK sets sights on gene therapy in eggs
    • Callaway E. UK sets sights on gene therapy in eggs. Nature 2012;481: 419-.
    • (2012) Nature , vol.481 , pp. 419
    • Callaway, E.1
  • 11
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348: 2656-2668.
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • Dimauro, S.1    Schon, E.A.2
  • 13
    • 33746503579 scopus 로고    scopus 로고
    • Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
    • Enns GM, Bai RK, Beck AE, Wong LJ. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab 2006;88: 364-371.
    • (2006) Mol Genet Metab , vol.88 , pp. 364-371
    • Enns, G.M.1    Bai, R.K.2    Beck, A.E.3    Wong, L.J.4
  • 14
    • 0027288377 scopus 로고
    • The mitochondrial DNA transfer RNA (Lys A.G 8344) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
    • Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morganhughes JA, Harding AE. The mitochondrial DNA transfer RNA (Lys) A.G(8344) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993;116: 617-632.
    • (1993) Brain , vol.116 , pp. 617-632
    • Hammans, S.R.1    Sweeney, M.G.2    Brockington, M.3    Lennox, G.G.4    Lawton, N.F.5    Kennedy, C.R.6    Morganhughes, J.A.7    Harding, A.E.8
  • 17
    • 0029064615 scopus 로고
    • Pedigree analysis in Leber hereditary optic neuropathy families with pathogenic mtDNA mutation
    • Harding AE, Sweeney MG, Govan GG, Riordaneva P. Pedigree analysis in Leber hereditary optic neuropathy families with pathogenic mtDNA mutation. Am J Hum Genet 1995;57: 77-86.
    • (1995) Am J Hum Genet , vol.57 , pp. 77-86
    • Harding, A.E.1    Sweeney, M.G.2    Govan, G.G.3    Riordaneva, P.4
  • 19
    • 0028100561 scopus 로고
    • Heteroplasmic LHON family-tissue distribution and transmission of the 11778 mutation
    • Howell N, Xu M, Halvorson S, Bodiswollner I, Sherman J. Heteroplasmic LHON family-tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 1994;55: 203-206.
    • (1994) Am J Hum Genet , vol.55 , pp. 203-206
    • Howell, N.1    Xu, M.2    Halvorson, S.3    Bodiswollner, I.4    Sherman, J.5
  • 23
    • 0026620865 scopus 로고
    • Segregation and manifestations of the mtDNA trans RNALys A.G 8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
    • Larsson NG, Tulinius MH, Holme E, Oldfors A, Andersen O, Wahlstrom J, Aasly J. Segregation and manifestations of the mtDNA trans RNALys A.G (8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1992; 51: 1201-1212.
    • (1992) Am J Hum Genet , vol.51 , pp. 1201-1212
    • Larsson, N.G.1    Tulinius, M.H.2    Holme, E.3    Oldfors, A.4    Andersen, O.5    Wahlstrom, J.6    Aasly, J.7
  • 24
    • 0035135552 scopus 로고    scopus 로고
    • Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA
    • Lien LM, Lee HC, Wang KL, Chiu JC, Chiu HC, Wei YH. Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. Acta Neurol Scand 2001;103: 159-165.
    • (2001) Acta Neurol Scand , vol.103 , pp. 159-165
    • Lien, L.M.1    Lee, H.C.2    Wang, K.L.3    Chiu, J.C.4    Chiu, H.C.5    Wei, Y.H.6
  • 25
    • 0025336365 scopus 로고
    • Variable genotype of Lebers hereditary optic neuropathy patients
    • Lott MT, Voljavec AS, Wallace DC. Variable genotype of Lebers hereditary optic neuropathy patients. Am J Ophthalmol 1990;109: 625-631.
    • (1990) Am J Ophthalmol , vol.109 , pp. 625-631
    • Lott, M.T.1    Voljavec, A.S.2    Wallace, D.C.3
  • 26
    • 0030197977 scopus 로고    scopus 로고
    • Leigh syndrome associated with mitochondrial DNA 8993 T-.G mutation and ragged-red fibers
    • Mak SC, Chi CS, Liu CY, Pang CY, Wei YH. Leigh syndrome associated with mitochondrial DNA 8993 T-.G mutation and ragged-red fibers. Pediatr Neurol 1996;15: 72-75.
    • (1996) Pediatr Neurol , vol.15 , pp. 72-75
    • Mak, S.C.1    Chi, C.S.2    Liu, C.Y.3    Pang, C.Y.4    Wei, Y.H.5
  • 27
    • 0028936818 scopus 로고
    • Correlation between the clinical symptoms and the propertion of mitochondrial DNA carry the 8993 point mutation in the NARP syndrome
    • Makelabengs P, Suomalainen A, Majander A, Rapola J, Kalimo H, Nuutila A, Pihko H. Correlation between the clinical symptoms and the propertion of mitochondrial DNA carry the 8993 point mutation in the NARP syndrome. Pediatr Res 1995;37: 634-639.
    • (1995) Pediatr Res , vol.37 , pp. 634-639
    • Makelabengs, P.1    Suomalainen, A.2    Majander, A.3    Rapola, J.4    Kalimo, H.5    Nuutila, A.6    Pihko, H.7
  • 29
    • 0029088475 scopus 로고
    • Intracellular heteroplasmy for disease-associated pointmutations in mtDNA: Implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA
    • Matthews PM, Brown RM, Morten K, Marchington D, Poulton J, Brown G. Intracellular heteroplasmy for disease-associated pointmutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. Hum Genet 1995;96: 261-268.
    • (1995) Hum Genet , vol.96 , pp. 261-268
    • Matthews, P.M.1    Brown, R.M.2    Morten, K.3    Marchington, D.4    Poulton, J.5    Brown, G.6
  • 30
    • 0031887449 scopus 로고    scopus 로고
    • Mitochondrial genotype segregation during preimplantation development in mouse heteroplasmic embryos
    • Meirelles F, Smith LC. Mitochondrial genotype segregation during preimplantation development in mouse heteroplasmic embryos. Genetics 1998;148: 877-883.
    • (1998) Genetics , vol.148 , pp. 877-883
    • Meirelles, F.1    Smith, L.C.2
  • 31
    • 80155155905 scopus 로고    scopus 로고
    • Transmitochondrial mice as models for mitochondrial DNA-based diseases
    • Nakada K, Hayashi J. Transmitochondrial mice as models for mitochondrial DNA-based diseases. Exp Anim 2011;60: 421-431.
    • (2011) Exp Anim , vol.60 , pp. 421-431
    • Nakada, K.1    Hayashi, J.2
  • 32
    • 0031745480 scopus 로고    scopus 로고
    • Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness
    • Olsson C, Zethelius B, Lagerstrom-Fermer M, Asplund J, Berne C, Landegren U. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness. Hum Mutat 1998;12: 52-58.
    • (1998) Hum Mutat , vol.12 , pp. 52-58
    • Olsson, C.1    Zethelius, B.2    Lagerstrom-Fermer, M.3    Asplund, J.4    Berne, C.5    Landegren, U.6
  • 36
    • 0027373031 scopus 로고
    • Myoclonus epolepsy and ragged-red fibers-blood miotochondrial DNA heteroplasmy in affected and symptomatic members of a family
    • Piccolo G, Focher F, Verri A, Spadari S, Banfi P, Gerosa E, Mazzarello P. Myoclonus epolepsy and ragged-red fibers-blood miotochondrial DNA heteroplasmy in affected and symptomatic members of a family. Acta Neurol Scand 1993;88: 406-409.
    • (1993) Acta Neurol Scand , vol.88 , pp. 406-409
    • Piccolo, G.1    Focher, F.2    Verri, A.3    Spadari, S.4    Banfi, P.5    Gerosa, E.6    Mazzarello, P.7
  • 37
    • 0035209570 scopus 로고    scopus 로고
    • Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation
    • Porto FBO, Mack G, Sterboul MP, Lewin P, Flament J, Sahel J, Dollfus H. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation. Am J Ophthalmol 2001;132: 935-937.
    • (2001) Am J Ophthalmol , vol.132 , pp. 935-937
    • Porto, F.B.O.1    MacK, G.2    Sterboul, M.P.3    Lewin, P.4    Flament, J.5    Sahel, J.6    Dollfus, H.7
  • 38
    • 0034255870 scopus 로고    scopus 로고
    • 74th ENMC international workshop: Mitochondrial diseases
    • Poulton J, Turnbull DM. 74th ENMC international workshop: mitochondrial diseases. Neuromuscul Disord 2000;10: 460-462.
    • (2000) Neuromuscul Disord , vol.10 , pp. 460-462
    • Poulton, J.1    Turnbull, D.M.2
  • 39
    • 61849145606 scopus 로고    scopus 로고
    • Preventing transmission of maternally inheritedmitochondrial DNA diseases
    • Poulton J, Kennedy S, Oakeshott P, Wells D. Preventing transmission of maternally inheritedmitochondrial DNA diseases. Br Med J 2009;338: b94.
    • (2009) Br Med J , vol.338
    • Poulton, J.1    Kennedy, S.2    Oakeshott, P.3    Wells, D.4
  • 40
    • 40749162840 scopus 로고    scopus 로고
    • Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-. G mutation in blood
    • Rajasimha HK, Chinnery PF, Samuels DC. Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-. G mutation in blood. Am J Hum Genet 2008;82: 333-343.
    • (2008) Am J Hum Genet , vol.82 , pp. 333-343
    • Rajasimha, H.K.1    Chinnery, P.F.2    Samuels, D.C.3
  • 43
    • 35348815475 scopus 로고    scopus 로고
    • Stability of the m.8993T-.G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome
    • Steffann J, Gigarel N, Corcos J, Bonniere M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R et al. Stability of the m.8993T-.G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome. J Med Genet 2007;44: 664-669.
    • (2007) J Med Genet , vol.44 , pp. 664-669
    • Steffann, J.1    Gigarel, N.2    Corcos, J.3    Bonniere, M.4    Encha-Razavi, F.5    Sinico, M.6    Prevot, S.7    Dumez, Y.8    Yamgnane, A.9    Frydman, R.10
  • 46
    • 0031833764 scopus 로고    scopus 로고
    • A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression
    • Tanaka A, Kiyosawa M, Mashima Y, Tokoro T. A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression. J Neuroophthalmol 1998;18: 81-83.
    • (1998) J Neuroophthalmol , vol.18 , pp. 81-83
    • Tanaka, A.1    Kiyosawa, M.2    Mashima, Y.3    Tokoro, T.4
  • 48
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn DR, Dahl HHM. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001; 106: 102-114.
    • (2001) Am J Med Genet , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.M.2
  • 49
    • 0030749664 scopus 로고    scopus 로고
    • Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
    • Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997;63: 16-22.
    • (1997) J Neurol Neurosurg Psychiatry , vol.63 , pp. 16-22
    • Uziel, G.1    Moroni, I.2    Lamantea, E.3    Fratta, G.M.4    Ciceri, E.5    Carrara, F.6    Zeviani, M.7
  • 51
    • 0036515339 scopus 로고    scopus 로고
    • Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA
    • Wong LJC, Wong H, Liu AY. Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. Genet Med 2002;4: 78-83.
    • (2002) Genet Med , vol.4 , pp. 78-83
    • Wong, L.J.C.1    Wong, H.2    Liu, A.Y.3
  • 52
    • 55049118774 scopus 로고    scopus 로고
    • The distribution of mitochondrial DNA heteroplasmy due to random genetic drift
    • Wonnapinij P, Chinnery PF, Samuels DC. The distribution of mitochondrial DNA heteroplasmy due to random genetic drift. Am J Hum Genet 2008; 83: 582-593.
    • (2008) Am J Hum Genet , vol.83 , pp. 582-593
    • Wonnapinij, P.1    Chinnery, P.F.2    Samuels, D.C.3
  • 53
    • 77950426086 scopus 로고    scopus 로고
    • Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: Comparing the mtDNA genetic bottleneck in mice and humans
    • Wonnapinij P, Chinnery PF, Samuels DC. Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans. Am J Hum Genet 2010;86: 540-550.
    • (2010) Am J Hum Genet , vol.86 , pp. 540-550
    • Wonnapinij, P.1    Chinnery, P.F.2    Samuels, D.C.3
  • 54
    • 0026507506 scopus 로고
    • Mitochondrial DNA mutation and heteroplasmy in type i Leber hereditary optic neuropathy
    • Zhu DP, Economou EP, Antonarakis SE, Maumenee IH. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am J Med Genet 1992;42: 173-179.
    • (1992) Am J Med Genet , vol.42 , pp. 173-179
    • Zhu, D.P.1    Economou, E.P.2    Antonarakis, S.E.3    Maumenee, I.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.