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Volumn 13, Issue 4, 1999, Pages 261-270

Mitochondrial deafness mutations reviewed

Author keywords

Hearing loss; Mitochondrial DNA; Mutation; Ototoxicity; Presbyacusis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0033058511     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W     Document Type: Review
Times cited : (189)

References (71)
  • 2
    • 0026726965 scopus 로고
    • Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit Vila of human cytochrome c oxidase
    • Arnaudo E, Hirano M, Seelan RS, Milatovich A, Hsieh C, Fabriscke GM, Grossman LI, Francke U, Schon EA. 1992. Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit Vila of human cytochrome c oxidase. Gene 119:299-305.
    • (1992) Gene , vol.119 , pp. 299-305
    • Arnaudo, E.1    Hirano, M.2    Seelan, R.S.3    Milatovich, A.4    Hsieh, C.5    Fabriscke, G.M.6    Grossman, L.I.7    Francke, U.8    Schon, E.A.9
  • 4
    • 0029003553 scopus 로고
    • Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside-induced deafness
    • Bacino CM, Prezant TR, Bu X, Fournier P, Fischel-Ghodsian N. 1995. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside-induced deafness. Pharmacogenetics 5:165-172.
    • (1995) Pharmacogenetics , vol.5 , pp. 165-172
    • Bacino, C.M.1    Prezant, T.R.2    Bu, X.3    Fournier, P.4    Fischel-Ghodsian, N.5
  • 5
    • 0030849125 scopus 로고    scopus 로고
    • Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study
    • Bai U, Seidman MD, Hinojosa R, Quirk WS. 1997. Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study. Am J Otol 18:449-453.
    • (1997) Am J Otol , vol.18 , pp. 449-453
    • Bai, U.1    Seidman, M.D.2    Hinojosa, R.3    Quirk, W.S.4
  • 8
    • 0029832209 scopus 로고    scopus 로고
    • Audio-vestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides
    • Braverman I, Jaber L, Levi H, Adelman C, Arnos KS, Fischel-Ghodsian N, Shohat M, Elidan J. 1996. Audio-vestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides. Arch Otolaryngol Head Neck Surg 122:1001-1004.
    • (1996) Arch Otolaryngol Head Neck Surg , vol.122 , pp. 1001-1004
    • Braverman, I.1    Jaber, L.2    Levi, H.3    Adelman, C.4    Arnos, K.S.5    Fischel-Ghodsian, N.6    Shohat, M.7    Elidan, J.8
  • 12
    • 0031900991 scopus 로고    scopus 로고
    • The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics
    • Chomyn A. 1998. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.. Am J Hum Genet 62:745-751.
    • (1998) Am J Hum Genet , vol.62 , pp. 745-751
    • Chomyn, A.1
  • 13
    • 0343852695 scopus 로고    scopus 로고
    • Two large spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: Evidence of heteroplasmy
    • El-Schahawi M, deMunain L, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S. 1997. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: evidence of heteroplasmy. Neurology 48:453-456.
    • (1997) Neurology , vol.48 , pp. 453-456
    • El-Schahawi, M.1    DeMunain, L.2    Sarrazin, A.M.3    Shanske, A.L.4    Basirico, M.5    Shanske, S.6    DiMauro, S.7
  • 15
    • 0031958231 scopus 로고    scopus 로고
    • Mitochondrial genetics and hearing loss - The missing link between genotype and phenotype
    • Fischel-Ghodsian N. 1998a. Mitochondrial genetics and hearing loss - the missing link between genotype and phenotype. Proc Soc Exp Biol . Med 218:1-6.
    • (1998) Proc Soc Exp Biol . Med , vol.218 , pp. 1-6
    • Fischel-Ghodsian, N.1
  • 16
    • 0031917201 scopus 로고    scopus 로고
    • Mitochondrial mutations and hearing loss - Paradigm for mitochondrial genetics
    • Fischel-Ghodsian N. 1998b. Mitochondrial mutations and hearing loss - paradigm for mitochondrial genetics. Am J Hum Genet 62:15-19.
    • (1998) Am J Hum Genet , vol.62 , pp. 15-19
    • Fischel-Ghodsian, N.1
  • 17
    • 0027515721 scopus 로고
    • Mitochondrial ribosomal RNA gene mutation associated with aminoglycoside ototoxicity
    • Fischel-Ghodsian N, Prezant TR, Bu X, Öztas S. 1993. Mitochondrial ribosomal RNA gene mutation associated with aminoglycoside ototoxicity. AmJ Otolaryngol 14:399-403.
    • (1993) AmJ Otolaryngol , vol.14 , pp. 399-403
    • Fischel-Ghodsian, N.1    Prezant, T.R.2    Bu, X.3    Öztas, S.4
  • 23
    • 0023226742 scopus 로고
    • Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli
    • Gravel M, Melancon P, Brakier-Gingras L. 1987. Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli. Biochemistry 26:6227-6232.
    • (1987) Biochemistry , vol.26 , pp. 6227-6232
    • Gravel, M.1    Melancon, P.2    Brakier-Gingras, L.3
  • 24
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation
    • Guan M, Fischel-Ghodsian N, Attardi G. 1996. Biochemical evidence for nuclear gene involvement in phenotype of nonsyndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet 5:963-972.
    • (1996) Hum Mol Genet , vol.5 , pp. 963-972
    • Guan, M.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 25
    • 24844463031 scopus 로고    scopus 로고
    • Pathogenetic mechanism of the mitochondrial tRNASer(UCN) precursor 7445 mutation and coexisting complex I subunit mtDNA mutations associated with nonsyndromic deafness
    • Guan M, Enriquez JA, Fischel-Ghodsian N, Attardi G. 1997. Pathogenetic mechanism of the mitochondrial tRNASer(UCN) precursor 7445 mutation and coexisting complex I subunit mtDNA mutations associated with nonsyndromic deafness. Am J Hum Genet 61:A1807.
    • (1997) Am J Hum Genet , vol.61
    • Guan, M.1    Enriquez, J.A.2    Fischel-Ghodsian, N.3    Attardi, G.4
  • 26
    • 0031682732 scopus 로고    scopus 로고
    • Deafness-associated mtDNA 7445 mutation has pleiotropic effects, affecting tRNAser(UCN) precursor processing and expression of NADH dehydrogenase ND6 subunit gene
    • Guan M, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin C, Maw M, Attardi G. 1998. Deafness-associated mtDNA 7445 mutation has pleiotropic effects, affecting tRNASer(UCN) precursor processing and expression of NADH dehydrogenase ND6 subunit gene. Mol Cell Biol 18:5868-5879.
    • (1998) Mol Cell Biol , vol.18 , pp. 5868-5879
    • Guan, M.1    Enriquez, J.A.2    Fischel-Ghodsian, N.3    Puranam, R.S.4    Lin, C.5    Maw, M.6    Attardi, G.7
  • 27
    • 0030827973 scopus 로고    scopus 로고
    • Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness
    • Hamasaki K, Rando RR. 1997. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness. Biochemistry 36:12323-12328.
    • (1997) Biochemistry , vol.36 , pp. 12323-12328
    • Hamasaki, K.1    Rando, R.R.2
  • 28
    • 0030837435 scopus 로고    scopus 로고
    • Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: A family study of A3243G mutation mitochondrial heteroplasmy
    • Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong LJ. 1997. Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mutation mitochondrial heteroplasmy. Am J Ophthalmol 124:217-221..
    • (1997) Am J Ophthalmol , vol.124 , pp. 217-221
    • Harrison, T.J.1    Boles, R.G.2    Johnson, D.R.3    LeBlond, C.4    Wong, L.J.5
  • 29
    • 0023918234 scopus 로고
    • Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity
    • Henley CM, Schacht J. 1988. Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity. Audiology 27:137-146.
    • (1988) Audiology , vol.27 , pp. 137-146
    • Henley, C.M.1    Schacht, J.2
  • 30
    • 0024360825 scopus 로고
    • Unique inheritance of streptomycin-induced deafness
    • Higashi K. 1989. Unique inheritance of streptomycin-induced deafness. Clin Genet 35:433-436.
    • (1989) Clin Genet , vol.35 , pp. 433-436
    • Higashi, K.1
  • 31
    • 0023579725 scopus 로고
    • Decoding at the ribosomal A site antibiotics, misreading and energy of aminoacyl-tRNA binding
    • Hornig H, Woolley P, Luhrmann R. 1987. Decoding at the ribosomal A site antibiotics, misreading and energy of aminoacyl-tRNA binding. Biochimie 69:803-813.
    • (1987) Biochimie , vol.69 , pp. 803-813
    • Hornig, H.1    Woolley, P.2    Luhrmann, R.3
  • 32
    • 0027932137 scopus 로고
    • Mitochondrial gene mutations and human diseases: A prolegomenon
    • Howell N. 1994. Mitochondrial gene mutations and human diseases: a prolegomenon. Am J Hum Genet 55:219-224.
    • (1994) Am J Hum Genet , vol.55 , pp. 219-224
    • Howell, N.1
  • 35
    • 0030601096 scopus 로고    scopus 로고
    • Mutant mtDNA at 1555 A to G in the 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to r0 HeLa cells
    • Inoue K, Takai D, Soejima A, Isobe K, Yamasoba T, Oka Y, Goto Y, Hayashi J. 1996. Mutant mtDNA at 1555 A to G in the 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to r0 HeLa cells. Biochem Biophys Res Commun 223:496-501.
    • (1996) Biochem Biophys Res Commun , vol.223 , pp. 496-501
    • Inoue, K.1    Takai, D.2    Soejima, A.3    Isobe, K.4    Yamasoba, T.5    Oka, Y.6    Goto, Y.7    Hayashi, J.8
  • 40
    • 0027306824 scopus 로고
    • Presence of mitochondrial large ribosomal RNA outside mitochondria in germ plasm of Drosophila melanogaster
    • Kobayashi S, Amikura R, Okada M. 1993. Presence of mitochondrial large ribosomal RNA outside mitochondria in germ plasm of Drosophila melanogaster. Science 260:1521-1524.
    • (1993) Science , vol.260 , pp. 1521-1524
    • Kobayashi, S.1    Amikura, R.2    Okada, M.3
  • 42
    • 0019908820 scopus 로고
    • Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria
    • Li M, Tzagaloff A, Underbrink-Lyon K, Martin NC. 1982. Identification of the paromomycin-resistance mutation in the 15S rRNA gene of yeast mitochondria. J Biol Chem 257:5921-5928.
    • (1982) J Biol Chem , vol.257 , pp. 5921-5928
    • Li, M.1    Tzagaloff, A.2    Underbrink-Lyon, K.3    Martin, N.C.4
  • 43
    • 0029916599 scopus 로고    scopus 로고
    • Nonsyndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
    • Matthijs G, Claes S, Longo-Mbenza B, Cassiman J-J. 1996. Nonsyndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 4:46-51.
    • (1996) Eur J Hum Genet , vol.4 , pp. 46-51
    • Matthijs, G.1    Claes, S.2    Longo-Mbenza, B.3    Cassiman, J.-J.4
  • 44
    • 0002543513 scopus 로고
    • Mitochondrial DNA mutations and human aging: Molecular biology, bioenergetics, and redox therapy
    • DiMauro S, Wallace DC, editors. New York: Raven Press
    • Nagley P, Zhang C, Martinus RD, Vaillant F, Linnane AW. 1993. Mitochondrial DNA mutations and human aging: Molecular biology, bioenergetics, and redox therapy. In: DiMauro S, Wallace DC, editors. Mitochondrial DNA in human pathology. New York: Raven Press.
    • (1993) Mitochondrial DNA in Human Pathology
    • Nagley, P.1    Zhang, C.2    Martinus, R.D.3    Vaillant, F.4    Linnane, A.W.5
  • 46
    • 0030930127 scopus 로고    scopus 로고
    • Identification of a large scale mitochondrial DNA deletion in endocrinopathies and deafness: Report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
    • Nicolino M, Ferlin T, Forest M, Godinot C, Carrier H, David M, Chatelain P, Mousson B. 1997. Identification of a large scale mitochondrial DNA deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J Clin Endocrinol Metab 82:3063-3067.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3063-3067
    • Nicolino, M.1    Ferlin, T.2    Forest, M.3    Godinot, C.4    Carrier, H.5    David, M.6    Chatelain, P.7    Mousson, B.8
  • 47
    • 0027268052 scopus 로고
    • Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics
    • Oka Y, Katagiri H, Yazaki Y, Murase T, Kohayashi T. 1993. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics. Lancet 342:527-528.
    • (1993) Lancet , vol.342 , pp. 527-528
    • Oka, Y.1    Katagiri, H.2    Yazaki, Y.3    Murase, T.4    Kohayashi, T.5
  • 49
    • 0001327865 scopus 로고
    • Familial sensitivity to streptomycin
    • Prazic M, Salaj B, Subotic R. 1964. Familial sensitivity to streptomycin. J Laryngol Otol 78:1037-1043.
    • (1964) J Laryngol Otol , vol.78 , pp. 1037-1043
    • Prazic, M.1    Salaj, B.2    Subotic, R.3
  • 51
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT. 1994a. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243-247.
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 52
    • 0028094531 scopus 로고
    • Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • Reid FM, Vernham GA, Jacobs HT. 1994b. Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum Mol Genet 3:1435-1436.
    • (1994) Hum Mol Genet , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 54
    • 0031113339 scopus 로고    scopus 로고
    • Mitochondrial DNA [tRNA(Leu) (UUR)] in a southern italian diabetic population [letter]
    • Rigoli L, Di Benedetto A, Romano G, Corica F, Cucinotta D. 1997. Mitochondrial DNA [tRNA(Leu) (UUR)] in a southern Italian diabetic population [letter]. Diabetes Care 20:674-675.
    • (1997) Diabetes Care , vol.20 , pp. 674-675
    • Rigoli, L.1    Di Benedetto, A.2    Romano, G.3    Corica, F.4    Cucinotta, D.5
  • 59
    • 0344532653 scopus 로고    scopus 로고
    • Aminoglycoside induced deafness in an Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation
    • in press
    • Shohat M, Fischel-Ghodsian N, Legum C, Halpern GJ: Aminoglycoside induced deafness in an Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation. Am J Otolaryngol (in press).
    • Am J Otolaryngol
    • Shohat, M.1    Fischel-Ghodsian, N.2    Legum, C.3    Halpern, G.J.4
  • 61
    • 0021892944 scopus 로고
    • The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin
    • Spangler EA, Blackburn EH. 1985. The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin. J Biol Chem 260:6334-6340.
    • (1985) J Biol Chem , vol.260 , pp. 6334-6340
    • Spangler, E.A.1    Blackburn, E.H.2
  • 62
    • 0002520417 scopus 로고
    • Animal models in the study of ototoxic hearing loss
    • Lerner SA, Matz GL, Hawkins JE Jr, editors. Boston: Little, Brown
    • Stebbins WC, McGinn CS, Feitosa AG. 1981. Animal models in the study of ototoxic hearing loss. In: Lerner SA, Matz GL, Hawkins JE Jr, editors. Aminoglycoside ototoxicity. Boston: Little, Brown. p 5-25.
    • (1981) Aminoglycoside Ototoxicity , pp. 5-25
    • Stebbins, W.C.1    McGinn, C.S.2    Feitosa, A.G.3
  • 64
    • 0004735469 scopus 로고    scopus 로고
    • A novel T1095C mutation in the mitochondrial 12S ribosomal RNA gene
    • P06.139 (abst)
    • Thyagarajan D, Bressman S, Shanske S, DiMauro S, Fahn S. 1997. A novel T1095C mutation in the mitochondrial 12S ribosomal RNA gene. Neurology 48(suppl):P06.139 (abst).
    • (1997) Neurology , vol.48 , Issue.SUPPL.
    • Thyagarajan, D.1    Bressman, S.2    Shanske, S.3    DiMauro, S.4    Fahn, S.5
  • 66
    • 0015120431 scopus 로고
    • Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea
    • Tsuiki T, Murai S. 1971. Familial incidence of streptomycin hearing loss and hereditary weakness of the cochlea. Audiology 10:315-322.
    • (1971) Audiology , vol.10 , pp. 315-322
    • Tsuiki, T.1    Murai, S.2
  • 70
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC. 1992. Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 71
    • 0025781896 scopus 로고
    • H-2M3 encodes the MHC class I molecule presenting the maternally transmitted antigen of the mouse
    • Wang CR, Loveland BE, Fischer-Lindahl K. 1991. H-2M3 encodes the MHC class I molecule presenting the maternally transmitted antigen of the mouse. Cell 66:335-345.
    • (1991) Cell , vol.66 , pp. 335-345
    • Wang, C.R.1    Loveland, B.E.2    Fischer-Lindahl, K.3


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