메뉴 건너뛰기




Volumn 9, Issue 10, 2003, Pages 631-638

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases

Author keywords

Heteroplasmy; Mitochondrial DNA; Mouse model; mtDNA diseases; Preimplantation genetic diagnosis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0141504960     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gag077     Document Type: Article
Times cited : (63)

References (44)
  • 2
    • 0003841610 scopus 로고
    • Human cleavage stage biopsy for preimplantation genetic diagnosis
    • CD ROM Reprod
    • Ao, A. and Handyside, A.H. (1995) Human cleavage stage biopsy for preimplantation genetic diagnosis. Hum. Reprod. Update, 1, CD ROM.
    • (1995) Hum. Report Update , vol.1
    • Ao, A.1    Handyside, A.H.2
  • 4
    • 0032887927 scopus 로고    scopus 로고
    • Mitochondrial DNA rearrangements in human oocytes and embryos
    • Barritt, J.A., Brenner, C.A., Cohen, J. and Matt, D.W. (1999) Mitochondrial DNA rearrangements in human oocytes and embryos. Mol. Hum. Reprod., 5, 927-933.
    • (1999) Mol. Hum. Reprod. , vol.5 , pp. 927-933
    • Barritt, J.A.1    Brenner, C.A.2    Cohen, J.3    Matt, D.W.4
  • 6
    • 0030910828 scopus 로고    scopus 로고
    • Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes
    • Blok, R.B., Gook, D.A., Thorburn, DR. and Dahl, H.H. (1997) Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am. J. Hum. Genet., 60, 1495-1501.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1495-1501
    • Blok, R.B.1    Gook, D.A.2    Thorburn, D.R.3    Dahl, H.H.4
  • 7
    • 0016327931 scopus 로고
    • The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid
    • Bogenhagen, D. and Clayton, D.A. (1974) The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid. J. Biol. Chem., 249, 7991-7995.
    • (1974) J. Biol. Chem. , vol.249 , pp. 7991-7995
    • Bogenhagen, D.1    Clayton, D.A.2
  • 8
    • 0026621445 scopus 로고
    • Distribution and threshold expression of the tRNA (Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Boulet, L., Karpati, G. and Shoubridge, E.A. (1992) Distribution and threshold expression of the tRNA (Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet., 51, 1187-200.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 9
    • 0034728920 scopus 로고    scopus 로고
    • Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease
    • Briggs, D.A., Power, N.J., Lamb, V., Rutherford, A.J. and Gosden, R.G. (2000) Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease. Lancet, 355, 1520-1521.
    • (2000) Lancet , vol.355 , pp. 1520-1521
    • Briggs, D.A.1    Power, N.J.2    Lamb, V.3    Rutherford, A.J.4    Gosden, R.G.5
  • 11
    • 0034956801 scopus 로고    scopus 로고
    • Epidemiology and treatment of mitochondrial disorders
    • Chinnery, P.F. and Turnbull, D.M. (2001) Epidemiology and treatment of mitochondrial disorders. Am. J. Med. Genet., 106, 94-101.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 94-101
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 13
    • 0029987709 scopus 로고    scopus 로고
    • The Mos/mitogen-activated protein kinase (MAPK) pathway regulates the size and degradation of the first polar body in maturing mouse oocytes
    • Choi, T., Fukasawa, K., Zhou, R., Tessarollo, L., Borror, K., Resau, J. and Vande Woude, G.F. (1996) The Mos/mitogen-activated protein kinase (MAPK) pathway regulates the size and degradation of the first polar body in maturing mouse oocytes. Proc. Natl Acad Sci. USA, 93, 7032-7035.
    • (1996) Proc. Natl Acad Sci. USA , vol.93 , pp. 7032-7035
    • Choi, T.1    Fukasawa, K.2    Zhou, R.3    Tessarollo, L.4    Borror, K.5    Resau, J.6    Vande Woude, G.F.7
  • 14
    • 0019978703 scopus 로고
    • Replication of animal mitochondrial DNA
    • Clayton, D.A. (1982) Replication of animal mitochondrial DNA. Cell, 28, 693-705.
    • (1982) Cell , vol.28 , pp. 693-705
    • Clayton, D.A.1
  • 15
    • 0024399081 scopus 로고
    • Single-sperm typing: Determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers
    • Cui, X.F., Li, H.H., Goradia, T.M., Lange, K., Kazazian, H.H.J., Galas, D. and Arnheim, N. (1989) Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl Acad. Sci. USA, 86, 9389-9393.
    • (1989) Proc. Natl Acad. Sci. USA , vol.86 , pp. 9389-9393
    • Cui, X.F.1    Li, H.H.2    Goradia, T.M.3    Lange, K.4    Kazazian, H.H.J.5    Galas, D.6    Arnheim, N.7
  • 16
    • 0033652899 scopus 로고    scopus 로고
    • Towards reliable prenatal diagnosis of mtDNA point mutations: Studies of nt8993 mutations in oocytes, fetal tissues, children and adults
    • Dahl, H.H., Thorburn, D.R. and White, S.L. (2000) Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults. Hum. Reprod., 15(Suppl. 2), 246-255.
    • (2000) Hum. Reprod. , vol.15 , Issue.SUPPL. 2 , pp. 246-255
    • Dahl, H.H.1    Thorburn, D.R.2    White, S.L.3
  • 17
    • 0034951327 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • DiMauro, S. and Schon, E.A. (2001) Mitochondrial DNA mutations in human disease. Am. J. Med. Genet., 106, 18-26.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 18-26
    • DiMauro, S.1    Schon, E.A.2
  • 18
    • 0033950567 scopus 로고    scopus 로고
    • Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree
    • Dubeau, F., De Stefano, N., Zifkin, B.G., Arnold, D.L. and Shoubridge, E.A. (2000) Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann. Neurol., 47, 179-185.
    • (2000) Ann. Neurol. , vol.47 , pp. 179-185
    • Dubeau, F.1    De Stefano, N.2    Zifkin, B.G.3    Arnold, D.L.4    Shoubridge, E.A.5
  • 19
    • 0001043863 scopus 로고    scopus 로고
    • ESHRE Preimplantation Genetic Diagnosis Consortium: Data collection III (May 2001)
    • ESHRE PGD Consortium Steering Committee
    • ESHRE PGD Consortium Steering Committee (2002) ESHRE Preimplantation Genetic Diagnosis Consortium: data collection III (May 2001). Hum. Reprod., 17, 233-246.
    • (2002) Hum. Reprod. , vol.17 , pp. 233-246
  • 20
    • 0031805181 scopus 로고    scopus 로고
    • Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases
    • Grifo, J.A., Giatras, K., Tang, Y.X. and Krey, L.C. (1998) Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases. Hum. Reprod, 13, 1656-1659.
    • (1998) Hum. Reprod. , vol.13 , pp. 1656-1659
    • Grifo, J.A.1    Giatras, K.2    Tang, Y.X.3    Krey, L.C.4
  • 21
    • 0025307919 scopus 로고
    • Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
    • Handyside, A., Kontogianni, E., Hardy, K. and Winston, R.M. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
    • (1990) Nature , vol.344 , pp. 768-770
    • Handyside, A.1    Kontogianni, E.2    Hardy, K.3    Winston, R.M.4
  • 24
    • 0025836655 scopus 로고
    • Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
    • Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl Acad. Sci. USA, 88, 10614-10618.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 10614-10618
    • Hayashi, J.1    Ohta, S.2    Kikuchi, A.3    Takemitsu, M.4    Goto, Y.5    Nonaka, I.6
  • 25
    • 0029816795 scopus 로고    scopus 로고
    • Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
    • Jenuth, J.P., Peterson, A.C., Fu, K. and Shoubridge, E.A. (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet., 14, 146-151.
    • (1996) Nat. Genet. , vol.14 , pp. 146-151
    • Jenuth, J.P.1    Peterson, A.C.2    Fu, K.3    Shoubridge, E.A.4
  • 26
    • 0030951244 scopus 로고    scopus 로고
    • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
    • Jenuth, J.P., Peterson, A.C. and Shoubridge, E.A. (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet., 16, 93-95.
    • (1997) Nat. Genet. , vol.16 , pp. 93-95
    • Jenuth, J.P.1    Peterson, A.C.2    Shoubridge, E.A.3
  • 27
    • 0033378762 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: Clinical experience including the initiation of six singleton pregnancies
    • Kanavakis, E., Vrettou, C., Palmer, G., Tzetis, M., Mastrominas, M. and. Traeger-Synodinos, J. (1999) Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat. Diagn., 19, 1217-1222.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1217-1222
    • Kanavakis, E.1    Vrettou, C.2    Palmer, G.3    Tzetis, M.4    Mastrominas, M.5    Traeger-Synodinos, J.6
  • 28
    • 0031025813 scopus 로고    scopus 로고
    • Mitochondrial genotype in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation
    • Meirelles, F. and Smith, L. (1997) Mitochondrial genotype in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics, 145, 445-451.
    • (1997) Genetics , vol.145 , pp. 445-451
    • Meirelles, F.1    Smith, L.2
  • 29
    • 0000696057 scopus 로고    scopus 로고
    • Preimplantation diagnosis for mitochondrial disorders
    • Molnar, M.J. and Shoubridge, E.A. (1999) Preimplantation diagnosis for mitochondrial disorders. Neuromusc. Disord., 9, 521.
    • (1999) Neuromusc. Disord. , vol.9 , pp. 521
    • Molnar, M.J.1    Shoubridge, E.A.2
  • 30
    • 0029055292 scopus 로고
    • The use of first polar bodies for preimplantation genetic diagnosis of aneuploidy
    • Munné, S., Daily, T., Sultan K.M., Grifo, J. and Cohen, J. (1995) The use of first polar bodies for preimplantation genetic diagnosis of aneuploidy. Hum. Reprod., 10, 1014-1020.
    • (1995) Hum. Reprod. , vol.10 , pp. 1014-1020
    • Munné, S.1    Daily, T.2    Sultan, K.M.3    Grifo, J.4    Cohen, J.5
  • 31
    • 0014693898 scopus 로고
    • Mitochondrial DNA. I. Intramitochondrial distribution and structural relations of single- and double-length circular DNA
    • Nass, M.M. (1969) Mitochondrial DNA. I. Intramitochondrial distribution and structural relations of single- and double-length circular DNA. J. Mol. Biol., 42, 521-528.
    • (1969) J. Mol. Biol. , vol.42 , pp. 521-528
    • Nass, M.M.1
  • 32
    • 0037225240 scopus 로고    scopus 로고
    • Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center
    • and the PGD Study Group
    • Pickering, S., Polidoropoulos, N., Caller, J., Scriven, P., Mackie Ogilvie, C., Braude, P. and the PGD Study Group (2003) Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertil. Steril., 79, 81-90.
    • (2003) Fertil. Steril. , vol.79 , pp. 81-90
    • Pickering, S.1    Polidoropoulos, N.2    Caller, J.3    Scriven, P.4    Mackie Ogilvie, C.5    Braude, P.6
  • 33
    • 0036078149 scopus 로고    scopus 로고
    • Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: Clinical implications
    • Poulton, J. and Marchington, D.R. (2002) Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications. Reproduction, 123, 751-755,
    • (2002) Reproduction , vol.123 , pp. 751-755
    • Poulton, J.1    Marchington, D.R.2
  • 34
    • 0027280499 scopus 로고
    • Noninvasive diagnosis of the MELAS syndrome from blood DNA
    • Poulton, J. and Morten, K. (1993) Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann. Neurol., 34, 116.
    • (1993) Ann. Neurol. , vol.34 , pp. 116
    • Poulton, J.1    Morten, K.2
  • 37
    • 0026054963 scopus 로고
    • Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell
    • Satoh, M. and Kuroiwa, T. (1991) Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell. Exp. Cell Res., 196, 137-140.
    • (1991) Exp. Cell Res. , vol.196 , pp. 137-140
    • Satoh, M.1    Kuroiwa, T.2
  • 38
    • 0034252008 scopus 로고    scopus 로고
    • Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR
    • Steuerwald, N., Barritt, J.A., Adler, R., Malter, H., Schimmel, T., Cohen, J. and Brenner, C.A. (2000) Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR. Zygote, 8, 209-215.
    • (2000) Zygote , vol.8 , pp. 209-215
    • Steuerwald, N.1    Barritt, J.A.2    Adler, R.3    Malter, H.4    Schimmel, T.5    Cohen, J.6    Brenner, C.A.7
  • 39
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn, D.R. and Dahl, H.H. (2001) Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am. J. Med. Genet., 106, 102-114.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.2
  • 40
    • 0034532015 scopus 로고    scopus 로고
    • Differential mitochondrial distribution in human pronuclear embryos leads to disproportionate inheritance between blastomeres: Relationship to microtubular organization, ATP content and competence
    • Van Blerkom, J., Davis, P. and Alexander, S. (2000) Differential mitochondrial distribution in human pronuclear embryos leads to disproportionate inheritance between blastomeres: relationship to microtubular organization, ATP content and competence. Hum. Reprod., 15, 2621-2633.
    • (2000) Hum. Reprod. , vol.15 , pp. 2621-2633
    • Van Blerkom, J.1    Davis, P.2    Alexander, S.3
  • 44
    • 0032700777 scopus 로고    scopus 로고
    • Two cases of prenatal analysis for the pathogenic T to G substitution at nucleofide 8993 in mitochondrial DNA
    • White, S.L., Shanske, S., Biros, I., Warwick, L., Dahl, H.M., Thorburn, D.R. and Di Mauro, S. (1999). Two cases of prenatal analysis for the pathogenic T to G substitution at nucleofide 8993 in mitochondrial DNA. Prenat. Diagn., 19, 1165-1168.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1165-1168
    • White, S.L.1    Shanske, S.2    Biros, I.3    Warwick, L.4    Dahl, H.M.5    Thorburn, D.R.6    Di Mauro, S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.