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Volumn 27, Issue 11, 2010, Pages 641-648

No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

Author keywords

Deletion; Mitochondrial DNA; Mutation; Repeated pregnancy loss

Indexed keywords

MITOCHONDRIAL DNA; NUCLEOTIDE;

EID: 78651278396     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10815-010-9435-2     Document Type: Article
Times cited : (22)

References (47)
  • 1
    • 0023740326 scopus 로고
    • Incidence of early loss of pregnancy
    • Wilcox AJ et al. Incidence of early loss of pregnancy. N Engl J Med. 1988;319(4):189-94.
    • (1988) N Engl J Med , vol.319 , Issue.4 , pp. 189-194
    • Wilcox, A.J.1
  • 2
    • 0028235122 scopus 로고
    • An informative protocol for the investigation of recurrent miscarriage: Preliminary experience of 500 consecutive cases
    • Clifford K et al. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. Hum Reprod. 1994;9(7):1328-32.
    • (1994) Hum Reprod , vol.9 , Issue.7 , pp. 1328-1332
    • Clifford, K.1
  • 3
    • 0027945531 scopus 로고
    • Recurrent miscarriage: Epidemiologic factors, definitions, and incidence
    • Hatasaka HH. Recurrent miscarriage: epidemiologic factors, definitions, and incidence. Clin Obstet Gynecol. 1994;37 (3):625-34.
    • (1994) Clin Obstet Gynecol , vol.37 , Issue.3 , pp. 625-634
    • Hatasaka, H.H.1
  • 4
    • 4544386290 scopus 로고    scopus 로고
    • Mitochondria and reproduction
    • May-Panloup P et al. Mitochondria and reproduction. Med Sci (Paris). 2004;20(8-9):779-83.
    • (2004) Med Sci (Paris) , vol.20 , Issue.8-9 , pp. 779-783
    • May-Panloup, P.1
  • 6
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn DR, Dahl HH. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet. 2001;106(1):102-14.
    • (2001) Am J Med Genet , vol.106 , Issue.1 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.2
  • 7
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290(5806):457-65.
    • (1981) Nature , vol.290 , Issue.5806 , pp. 457-465
    • Anderson, S.1
  • 8
    • 0345060451 scopus 로고    scopus 로고
    • Alterations in the mitochondrial displacement loop in lung cancers
    • Suzuki M et al. Alterations in the mitochondrial displacement loop in lung cancers. Clin Cancer Res. 2003;9(15):5636-41.
    • (2003) Clin Cancer Res , vol.9 , Issue.15 , pp. 5636-5641
    • Suzuki, M.1
  • 9
    • 64549101952 scopus 로고    scopus 로고
    • Do mitochondrial mutations cause recurrent miscarriage?
    • Kaare M et al. Do mitochondrial mutations cause recurrent miscarriage? Mol Hum Reprod. 2009;15(5):295-300.
    • (2009) Mol Hum Reprod , vol.15 , Issue.5 , pp. 295-300
    • Kaare, M.1
  • 10
    • 0030898192 scopus 로고    scopus 로고
    • A high observed substitution rate in the human mitochondrial DNA control region
    • Parsons TJ et al. A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet. 1997;15 (4):363-8.
    • (1997) Nat Genet , vol.15 , Issue.4 , pp. 363-368
    • Parsons, T.J.1
  • 11
    • 0033638057 scopus 로고    scopus 로고
    • Hyperhomocysteinemia and recurrent early pregnancy loss: A meta-analysis
    • Nelen WL et al. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril. 2000;74(6):1196-9.
    • (2000) Fertil Steril , vol.74 , Issue.6 , pp. 1196-1199
    • Nelen, W.L.1
  • 12
    • 78651311841 scopus 로고    scopus 로고
    • Abolhasan farhoudi role of mitochondria in ataxia-telangiectasia: Investigation of mitochondrial deletions and haplogroups
    • Massoud Houshmand, M.H.S., Baharak Hooshiar Kashani, Mehdi Shafa Shariat Panahi, Mohammad Mehdi Banoei, Anna Isaian, Mostafa Moin, Abolhasan Farhoudi Role of mitochondria in Ataxia-Telangiectasia:Investigation of mitochondrial deletions and Haplogroups. Iranian Journal of Biotechnology (IJB). 2006;4 (1):64-8.
    • (2006) Iranian Journal of Biotechnology (IJB) , vol.4 , Issue.1 , pp. 64-68
    • Massoud Houshmand, M.H.S.1    Baharak, H.K.2    Mehdi, S.S.P.3    Mohammad, M.B.4    Anna, I.5    Mostafa, M.6
  • 13
    • 33751265102 scopus 로고    scopus 로고
    • What is a 'novel' mtDNA mutation-and does 'novelty' really matter?
    • Bandelt HJ, Salas A, Bravi CM. What is a 'novel' mtDNA mutation-and does 'novelty' really matter? J Hum Genet. 2006;51 (12):1073-82.
    • (2006) J Hum Genet , vol.51 , Issue.12 , pp. 1073-1082
    • Bandelt, H.J.1    Salas, A.2    Bravi, C.M.3
  • 14
    • 2642554611 scopus 로고    scopus 로고
    • Aberrant gene expression associated with recurrent pregnancy loss
    • Baek KH. Aberrant gene expression associated with recurrent pregnancy loss. Mol Hum Reprod. 2004;10(5):291-7.
    • (2004) Mol Hum Reprod , vol.10 , Issue.5 , pp. 291-297
    • Baek, K.H.1
  • 15
    • 0029076820 scopus 로고
    • Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis
    • Kaneda H et al. Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proc Natl Acad Sci U S A. 1995;92(10):4542-6.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , Issue.10 , pp. 4542-4546
    • Kaneda, H.1
  • 16
    • 33846032681 scopus 로고    scopus 로고
    • Mitochondrial DNA and the mammalian oocyte
    • Shoubridge EA, Wai T. Mitochondrial DNA and the mammalian oocyte. Curr Top Dev Biol. 2007;77:87-111.
    • (2007) Curr Top Dev Biol , vol.77 , pp. 87-111
    • Shoubridge, E.A.1    Wai, T.2
  • 17
    • 0033646646 scopus 로고    scopus 로고
    • Mitochondrial DNA segregation in the developing embryo
    • Shoubridge EA. Mitochondrial DNA segregation in the developing embryo. Hum Reprod. 2000;15 Suppl 2:229-34.
    • (2000) Hum Reprod , vol.15 , Issue.SUPPL. 2 , pp. 229-234
    • Shoubridge, E.A.1
  • 18
    • 32944459568 scopus 로고    scopus 로고
    • Mitochondrial content reflects oocyte variability and fertilization outcome
    • Santos TA, El Shourbagy S, St John JC. Mitochondrial content reflects oocyte variability and fertilization outcome. Fertil Steril. 2006;85(3):584-91.
    • (2006) Fertil Steril , vol.85 , Issue.3 , pp. 584-591
    • Santos, T.A.1    El Shourbagy, S.2    St John, J.C.3
  • 19
    • 22044447385 scopus 로고    scopus 로고
    • Abnormal mitochondrial structure in human unfertilized oocytes and arrested embryos
    • Au HK, Kao SH, Tzeng CR, Hsieh RH. Abnormal mitochondrial structure in human unfertilized oocytes and arrested embryos. Ann N Y Acad Sci. 2005;(1042):177-85.
    • (2005) Ann N Y Acad Sci , vol.1042 , pp. 177-185
    • Au, H.K.1    Kao, S.H.2    Tzeng, C.R.3    Hsieh, R.H.4
  • 20
    • 33846096853 scopus 로고    scopus 로고
    • The role of mitochondrial function in the oocyte and embryo
    • Dumollard R, Duchen M, Carroll J. The role of mitochondrial function in the oocyte and embryo. Curr Top Dev Biol. 2007;77:21-49.
    • (2007) Curr Top Dev Biol , vol.77 , pp. 21-49
    • Dumollard, R.1    Duchen, M.2    Carroll, J.3
  • 21
    • 64549114173 scopus 로고    scopus 로고
    • High rate of mutation in mitochondrial DNA displacement loop region in human colorectal cancer
    • Akouchekian M et al. High rate of mutation in mitochondrial DNA displacement loop region in human colorectal cancer. Dis Colon Rectum. 2009;52(3):526-30.
    • (2009) Dis Colon Rectum , vol.52 , Issue.3 , pp. 526-530
    • Akouchekian, M.1
  • 22
    • 33748296432 scopus 로고    scopus 로고
    • Tumoral cell mtDNA approximately 8.9 kb deletion is more common than other deletions in gastric cancer
    • Kamalidehghan B et al. Tumoral cell mtDNA approximately 8.9 kb deletion is more common than other deletions in gastric cancer. Arch Med Res. 2006;37(7):848-53.
    • (2006) Arch Med Res , vol.37 , Issue.7 , pp. 848-853
    • Kamalidehghan, B.1
  • 23
    • 0024447842 scopus 로고
    • Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy
    • Yuzaki M et al. Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy. Biochem Biophys Res Commun. 1989;164(3):1352-7.
    • (1989) Biochem Biophys Res Commun , vol.164 , Issue.3 , pp. 1352-1357
    • Yuzaki, M.1
  • 24
    • 33746466098 scopus 로고    scopus 로고
    • Mitochondrial mutations in cancer
    • Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene. 2006;25(34):4647-62.
    • (2006) Oncogene , vol.25 , Issue.34 , pp. 4647-4662
    • Brandon, M.1    Baldi, P.2    Wallace, D.C.3
  • 25
    • 0035882532 scopus 로고    scopus 로고
    • High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples
    • Kirches E et al. High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples. Int J Cancer. 2001;93(4):534-8.
    • (2001) Int J Cancer , vol.93 , Issue.4 , pp. 534-538
    • Kirches, E.1
  • 26
    • 41149151670 scopus 로고    scopus 로고
    • A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians
    • Park KS et al. A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians. Diabetologia. 2008;51(4):602-8.
    • (2008) Diabetologia , vol.51 , Issue.4 , pp. 602-608
    • Park, K.S.1
  • 27
    • 24344486784 scopus 로고    scopus 로고
    • Association of mitochondrial deoxyribonucleic acid 16189 variant (T->C transition) with metabolic syndrome in Chinese adults
    • Weng SW et al. Association of mitochondrial deoxyribonucleic acid 16189 variant (T->C transition) with metabolic syndrome in Chinese adults. J Clin Endocrinol Metab. 2005;90(9):5037-40.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.9 , pp. 5037-5040
    • Weng, S.W.1
  • 28
    • 33947666639 scopus 로고    scopus 로고
    • Distorted' mitochondrial DNA sequences in schizophrenic patients
    • author reply 402-4
    • Bandelt HJ et al. 'Distorted' mitochondrial DNA sequences in schizophrenic patients. Eur J Hum Genet. 2007;15(4):400-2. author reply 402-4.
    • (2007) Eur J Hum Genet , vol.15 , Issue.4 , pp. 400-402
    • Bandelt, H.J.1
  • 29
    • 0036399230 scopus 로고    scopus 로고
    • Are substitutions in the first hypervariable region of the mitochondrial DNA displacement-loop in sudden infant death syndrome due to maternal inheritance?z
    • Arnestad M et al. Are substitutions in the first hypervariable region of the mitochondrial DNA displacement-loop in sudden infant death syndrome due to maternal inheritance? Acta Paediatr. 2002;91(10):1060-4.
    • (2002) Acta Paediatr , vol.91 , Issue.10 , pp. 1060-1064
    • Arnestad, M.1
  • 30
    • 66849130909 scopus 로고    scopus 로고
    • Mitochondrial DNA haplogroups associated with age-related macular degeneration
    • Udar N et al. Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2009;50(6):2966-74.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , Issue.6 , pp. 2966-2974
    • Udar, N.1
  • 31
    • 0025915472 scopus 로고
    • Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy
    • Ozawa T et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun. 1991;177(1):518-25.
    • (1991) Biochem Biophys Res Commun , vol.177 , Issue.1 , pp. 518-525
    • Ozawa, T.1
  • 32
    • 0036054461 scopus 로고    scopus 로고
    • Comparison of gene expression at the fetomaternal interface between normal and recurrent pregnancy loss patients
    • Baek KH et al. Comparison of gene expression at the fetomaternal interface between normal and recurrent pregnancy loss patients. Reprod Fertil Dev. 2002;14(3-4):235-40.
    • (2002) Reprod Fertil Dev , vol.14 , Issue.3-4 , pp. 235-240
    • Baek, K.H.1
  • 33
    • 34547899139 scopus 로고    scopus 로고
    • Identification of the most informative regions of the mitochondrial genome for phylogenetic and coalescent analyses
    • Non AL, Kitchen A, Mulligan CJ. Identification of the most informative regions of the mitochondrial genome for phylogenetic and coalescent analyses. Mol Phylogenet Evol. 2007;44(3):1164-71.
    • (2007) Mol Phylogenet Evol , vol.44 , Issue.3 , pp. 1164-1171
    • Non, A.L.1    Kitchen, A.2    Mulligan, C.J.3
  • 34
    • 33749353734 scopus 로고    scopus 로고
    • Mitochondrial DNA D-loop in pancreatic cancer: Somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome
    • Navaglia F et al. Mitochondrial DNA D-loop in pancreatic cancer: somatic mutations are epiphenomena while the germline 16519 T variant worsens metabolism and outcome. Am J Clin Pathol. 2006;126(4):593-601.
    • (2006) Am J Clin Pathol , vol.126 , Issue.4 , pp. 593-601
    • Navaglia, F.1
  • 35
    • 65349154634 scopus 로고    scopus 로고
    • Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders
    • Camilleri M et al. Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders. Am J Physiol Gastrointest Liver Physiol. 2009;296(3): G510-6.
    • (2009) Am J Physiol Gastrointest Liver Physiol , vol.296 , Issue.3
    • Camilleri, M.1
  • 36
    • 67349199150 scopus 로고    scopus 로고
    • Genetic variability of HVRII mtDNA in cord blood and respiratory morbidity in children
    • Schmuczerova J et al. Genetic variability of HVRII mtDNA in cord blood and respiratory morbidity in children. Mutat Res. 2009;666(1-2):1-7.
    • (2009) Mutat Res , vol.666 , Issue.1-2 , pp. 1-7
    • Schmuczerova, J.1
  • 37
    • 57349130113 scopus 로고    scopus 로고
    • A mitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease
    • Khusnutdinova E et al. A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci. 2008;1147:1-20.
    • (2008) Ann N Y Acad Sci , vol.1147 , pp. 1-20
    • Khusnutdinova, E.1
  • 38
    • 10044270764 scopus 로고    scopus 로고
    • Association of the mitochondrial DNA haplogroup J with longevity is population specific
    • Dato S et al. Association of the mitochondrial DNA haplogroup J with longevity is population specific. Eur J Hum Genet. 2004;12 (12):1080-2.
    • (2004) Eur J Hum Genet , vol.12 , Issue.12 , pp. 1080-1082
    • Dato, S.1
  • 39
    • 4344570901 scopus 로고    scopus 로고
    • Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors
    • Kurtz A et al. Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. Mol Cancer Res. 2004;2(8):433-41.
    • (2004) Mol Cancer Res , vol.2 , Issue.8 , pp. 433-441
    • Kurtz, A.1
  • 40
    • 33846136757 scopus 로고    scopus 로고
    • Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer
    • Van Trappen PO et al. Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer. Gynecol Oncol. 2007;104 (1):129-33.
    • (2007) Gynecol Oncol , vol.104 , Issue.1 , pp. 129-133
    • Van Trappen, P.O.1
  • 41
    • 0141484570 scopus 로고    scopus 로고
    • Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
    • Filosto M et al. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol. 2003;54(4):524-6.
    • (2003) Ann Neurol , vol.54 , Issue.4 , pp. 524-526
    • Filosto, M.1
  • 42
    • 1042278719 scopus 로고    scopus 로고
    • Mitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma
    • Tang M et al. Mitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma. Clin Cancer Res. 2004;10(3):1041-6.
    • (2004) Clin Cancer Res , vol.10 , Issue.3 , pp. 1041-1046
    • Tang, M.1
  • 43
    • 0035992224 scopus 로고    scopus 로고
    • A new marker determining clonal outgrowth
    • Mao L. A new marker determining clonal outgrowth. Clin Cancer Res. 2002;8(7):2021-3.
    • (2002) Clin Cancer Res , vol.8 , Issue.7 , pp. 2021-2023
    • Mao, L.1
  • 44
    • 0032514892 scopus 로고    scopus 로고
    • Initiation of mitochondrial DNA replication by transcription and R-loop processing
    • Lee DY, Clayton DA. Initiation of mitochondrial DNA replication by transcription and R-loop processing. J Biol Chem. 1998;273 (46):30614-21.
    • (1998) J Biol Chem , vol.273 , Issue.46 , pp. 30614-30621
    • Lee, D.Y.1    Clayton, D.A.2
  • 45
    • 4544353776 scopus 로고    scopus 로고
    • Mitochondria in human oogenesis and preimplantation embryogenesis: Engines of metabolism, ionic regulation and developmental competence
    • Van Blerkom J. Mitochondria in human oogenesis and preimplantation embryogenesis: engines of metabolism, ionic regulation and developmental competence. Reproduction. 2004;128(3):269-80.
    • (2004) Reproduction , vol.128 , Issue.3 , pp. 269-280
    • Van Blerkom, J.1
  • 46
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • Zeviani M et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 1989;339(6222):309- 11.
    • (1989) Nature , vol.339 , Issue.6222 , pp. 309-311
    • Zeviani, M.1
  • 47
    • 0030897739 scopus 로고    scopus 로고
    • Genetic and functional changes in mitochondria associated with aging
    • Ozawa T. Genetic and functional changes in mitochondria associated with aging. Physiol Rev. 1997;77(2):425-64.
    • (1997) Physiol Rev , vol.77 , Issue.2 , pp. 425-464
    • Ozawa, T.1


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