메뉴 건너뛰기




Volumn 40, Issue 2, 2011, Pages 93-103

Mitochondrial diabetes and deafness: Possible dysfunction of strial marginal cells of the inner ear

Author keywords

Deoxyribonucleic acid (DNA); Mitochondrial; Mitochondrial diabetes and deafness; Mutation; Strial marginal cell

Indexed keywords

ADENOSINE TRIPHOSPHATE; C PEPTIDE; CHOLESTEROL; CINNARIZINE; CREATININE; HEMOGLOBIN A1C; LEUCINE TRANSFER RNA; METFORMIN; MITOCHONDRIAL DNA; POTASSIUM ION; RECOMBINANT HUMAN INSULIN; TRIACYLGLYCEROL;

EID: 79953712911     PISSN: 19160216     EISSN: None     Source Type: Journal    
DOI: 10.2310/7070.2010.100078     Document Type: Review
Times cited : (14)

References (35)
  • 1
    • 0028365102 scopus 로고
    • Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA (Leu(UUR)) gene
    • doi:10.2337/diabetes.43.6.746
    • van den Ouweland JM, Lemkes HH, Trembath RC, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA (Leu(UUR)) gene. Diabetes 1994;43:746-51, doi:10.2337/diabetes.43.6.746.
    • (1994) Diabetes , vol.43 , pp. 746-751
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Trembath, R.C.3
  • 2
    • 0030799145 scopus 로고    scopus 로고
    • Mutation in mitochondrial tRNAleu(UUR) gene associated with progressive kidney disease
    • Jansen JJ, Maassen JA, van der Woude FJ, et al. Mutation in mitochondrial tRNAleu(UUR) gene associated with progressive kidney disease. J Am Soc Nephrol 1997;8:1118-24.
    • (1997) J Am Soc Nephrol , vol.8 , pp. 1118-1124
    • Jansen, J.J.1    Maassen, J.A.2    Van Der Woude, F.J.3
  • 3
    • 0032976998 scopus 로고    scopus 로고
    • Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu(UUR)) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease
    • DOI 10.1007/s001250051183
    • van den Ouweland JMW, Maechler P, Wollheim CB, et al. Functional and morphological abnormalities of mitochondria harbouring the tRNALeu(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. Diabetologia 1999;42:485-92, doi:10.1007/s001250051183. (Pubitemid 29148409)
    • (1999) Diabetologia , vol.42 , Issue.4 , pp. 485-492
    • Van Den, O.J.M.W.1    Maechler, P.2    Wollheim, C.B.3    Attardi, G.4    Maassen, J.A.5
  • 4
    • 0842285626 scopus 로고    scopus 로고
    • Mitochondrial diabetes: Molecular mechanisms and clinical presentation
    • doi:10.2337/diabetes.53.2007.S103
    • Maassen JA, 't Hart LM, van Essen E, et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 2004;53 Suppl 1:S103-9, doi:10.2337/diabetes.53.2007.S103.
    • (2004) Diabetes , vol.53 , Issue.SUPPL. 1
    • Maassen, J.A.1    'T Hart, L.M.2    Van Essen, E.3
  • 5
    • 27144460552 scopus 로고    scopus 로고
    • Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing
    • DOI 10.1089/gte.2005.9.190
    • White HE, Durston VJ, Seller A, et al. Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. Genet Test 2005;9:190-9, doi:10.1089/gte.2005.9.190. (Pubitemid 41507751)
    • (2005) Genetic Testing , vol.9 , Issue.3 , pp. 190-199
    • White, H.E.1    Durston, V.J.2    Seller, A.3    Fratter, C.4    Harvey, J.F.5    Cross, N.C.P.6
  • 6
    • 0012197804 scopus 로고    scopus 로고
    • The respiratory chain and oxidative phosphorylation
    • Murray RK, Granner DK, Mayes PA, Rowell VW, editors. 25th ed. Stamford (CT): Appleton & Lange
    • Mayes CA. The respiratory chain and oxidative phosphorylation. In: Murray RK, Granner DK, Mayes PA, Rowell VW, editors. Harper's biochemistry, 25th ed. Stamford (CT): Appleton & Lange; 2000. p. 137-48.
    • (2000) Harper's Biochemistry , pp. 137-148
    • Mayes, C.A.1
  • 7
    • 57649178442 scopus 로고    scopus 로고
    • Oxidative stress and energy crises in neuronal dysfunction
    • doi:10.1196/annals.1427.002
    • Nicholls DG. Oxidative stress and energy crises in neuronal dysfunction. Ann N Y Acad Sci 2008;1147:53-60, doi:10.1196/annals.1427.002.
    • (2008) Ann N Y Acad Sci , vol.1147 , pp. 53-60
    • Nicholls, D.G.1
  • 8
    • 77955511046 scopus 로고    scopus 로고
    • Initial algorithms, "K" and the blood glucose target value
    • Howorka K, editor. 2nd ed. Berlin: Springer-Verlag
    • Howorka K. Initial algorithms, "K" and the blood glucose target value. In: Howorka K, editor. Functional insulin treatment, principles, teaching approach and practice, 2nd ed. Berlin: Springer-Verlag; 1996. p. 45-9.
    • (1996) Functional Insulin Treatment, Principles, Teaching Approach and Practice , pp. 45-49
    • Howorka, K.1
  • 9
    • 68049108189 scopus 로고    scopus 로고
    • Plasma membrane depolarization as a determinant of the first phase of insulin secretion
    • doi:10.1152/ajpendo.90981.2008
    • Hatlapatka K, Willenborg M, Rustenbeck I. Plasma membrane depolarization as a determinant of the first phase of insulin secretion. Am J Physiol Endocrinol Metab 2009;297:E315-22, doi:10.1152/ajpendo.90981.2008.
    • (2009) Am J Physiol Endocrinol Metab , vol.297
    • Hatlapatka, K.1    Willenborg, M.2    Rustenbeck, I.3
  • 11
    • 79953719947 scopus 로고    scopus 로고
    • Mitochondrial genes: Their origin the effects of mutations
    • Nelson DL, Cox MM, editors. 5th ed. New York: W.H. Freeman and Company
    • Nelson DL, Cox MM. Mitochondrial genes: their origin the effects of mutations In: Nelson DL, Cox MM, editors. Lehninger principles of biochemistry, 5th ed. New York: W.H. Freeman and Company; 2008. p. 378-9.
    • (2008) Lehninger Principles of Biochemistry , pp. 378-379
    • Nelson, D.L.1    Cox, M.M.2
  • 12
    • 0004026407 scopus 로고    scopus 로고
    • Aminoacids
    • Nelson DL, Cox MM, editors. 5th ed. New York: W.H. Freeman and Company
    • Nelson DL, Cox MM. Aminoacids. In: Nelson DL, Cox MM, editors. Lehninger principles of biochemistry, 5th ed. New York: W.H. Freeman and Company; 2008. p. 73.
    • (2008) Lehninger Principles of Biochemistry , pp. 73
    • Nelson, D.L.1    Cox, M.M.2
  • 13
    • 0141925696 scopus 로고    scopus 로고
    • Disorders of mitochondrial protein synthesis
    • doi:10.1093/hmg/ddg285
    • Jacobs HT. Disorders of mitochondrial protein synthesis. [Special Issue] Hum Mol Genet 2003;12(2):R293-301, doi:10.1093/hmg/ddg285.
    • (2003) Hum Mol Genet , vol.12 , Issue.2 SPEC. ISSUE
    • Jacobs, H.T.1
  • 14
    • 33845496532 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness in a North American kindred: Tips for making the diagnosis and review of unique management issues
    • DOI 10.1210/jc.2006-1498
    • Donovan LE, Severin NE. Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. J Clin Endocrinol Metab 2006;91:4737-42, doi:10.1210/jc.2006- 1498. (Pubitemid 44917299)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.12 , pp. 4737-4742
    • Donovan, L.E.1    Severin, N.E.2
  • 15
    • 34247185346 scopus 로고    scopus 로고
    • Methyl succinate antagonises biguanide-induced AMPK-activation and death of pancreatic b-cells through restoration of mitochondrial electron transfer
    • DOI 10.1038/sj.bjp.0707189, PII 0707189
    • Hinke SA, Martens GA, Cai Y, et al. Methyl succinate antagonizes biguanide-induced AMPK-activation and death of pancreatic bcells through restoration of mitochondrial electron transfer. Br J Pharmacol 2007;150:1031-43, doi:10.1038/sj.bjp.0707189. (Pubitemid 46625097)
    • (2007) British Journal of Pharmacology , vol.150 , Issue.8 , pp. 1031-1043
    • Hinke, S.A.1    Martens, G.A.2    Cai, Y.3    Finsi, J.4    Heimberg, H.5    Pipeleers, D.6    Van De, C.M.7
  • 16
    • 79953729602 scopus 로고    scopus 로고
    • The ear
    • Geneser F, editor. Copenhagen: Munksgaard
    • Geneser F. The ear. In: Geneser F, editor. Histology - over biomolecular basis. Copenhagen: Munksgaard; 1999. p. 729-59.
    • (1999) Histology - Over Biomolecular Basis , pp. 729-759
    • Geneser, F.1
  • 17
    • 4644373263 scopus 로고    scopus 로고
    • The cochlear amplifier: Augmentation of the traveling wave within the inner ear
    • Oghalai JS. The cochlear amplifier: augmentation of the traveling wave within the inner ear. Curr Opin Otolaryngol Head Neck Surg 2004;12:431-8. (Pubitemid 39287573)
    • (2004) Current Opinion in Otolaryngology and Head and Neck Surgery , vol.12 , Issue.5 , pp. 431-438
    • Oghalai, J.S.1
  • 18
    • 8844250132 scopus 로고    scopus 로고
    • Hearing: Travelling wave or resonance?
    • doi:10.1371/journal.pbio.0020337
    • Bell A. Hearing: travelling wave or resonance? PloS Biol 2004;2: 1521-3, doi:10.1371/journal.pbio.0020337.
    • (2004) PloS Biol , vol.2 , pp. 1521-1523
    • Bell, A.1
  • 19
    • 33745072054 scopus 로고    scopus 로고
    • Tuning in to the amazing outer hair cell: Membrane wizardry with a twist and shout
    • DOI 10.1007/s00232-005-0833-9
    • He DZZ, Zheng J, Kalinec F, et al. Tuning in to the amazing outer hair cell: membrane wizardry with a twist and shout. J Membrane Biol 2006;209:119-34, doi:10.1007/s00232-005-0833-9. (Pubitemid 43886876)
    • (2006) Journal of Membrane Biology , vol.209 , Issue.2-3 , pp. 119-134
    • He, D.Z.Z.1    Zheng, J.2    Kalinec, F.3    Kakehata, S.4    Santos-Sacchi, J.5
  • 20
    • 33947328908 scopus 로고    scopus 로고
    • Mitochondrial rRNA and tRNA and hearing function
    • DOI 10.1038/sj.cr.7310124, PII 7310124
    • Xing G, Chen Z, Cao X. Mitochondrial rRNA and tRNA and hearing function. Cell Res 2007;17:227-39. (Pubitemid 46438720)
    • (2007) Cell Research , vol.17 , Issue.3 , pp. 227-239
    • Xing, G.1    Chen, Z.2    Cao, X.3
  • 21
    • 34547700102 scopus 로고    scopus 로고
    • The micromachinery of mechanotransduction in hair cells
    • DOI 10.1146/annurev.neuro.29.051605.112917
    • Vollrath MA, Kwan KY, Corey DP. The micromachinery of mechanotransduction in hair cells. Annu Rev Neurosci 2007;30: 339-65, doi:10.1146/annurev.neuro.29. 051605.112917. (Pubitemid 47218760)
    • (2007) Annual Review of Neuroscience , vol.30 , pp. 339-365
    • Vollrath, M.A.1    Kwan, K.Y.2    Corey, D.P.3
  • 22
    • 55349149640 scopus 로고    scopus 로고
    • Cochlear amplification, outer hair cells and prestin
    • doi:10.1016/j.conb.2008.08.016
    • Dallos P. Cochlear amplification, outer hair cells and prestin. Curr Opin Neurobiol 2008;18:370-6, doi:10.1016/j.conb.2008.08.016.
    • (2008) Curr Opin Neurobiol , vol.18 , pp. 370-376
    • Dallos, P.1
  • 23
    • 0042733703 scopus 로고    scopus 로고
    • New tunes from Corti's organ: The outer hair cell boogie rules
    • DOI 10.1016/S0959-4388(03)00100-4
    • Santos-Sacchi J. New tunes from Corti's organ: The outer hair cells boggie rules. Curr Opin Neurobiol 2003;13:459-68, doi:10.1016/S0959-4388(03) 00100-4. (Pubitemid 37098299)
    • (2003) Current Opinion in Neurobiology , vol.13 , Issue.4 , pp. 459-468
    • Santos-Sacchi, J.1
  • 24
    • 0036481993 scopus 로고    scopus 로고
    • Prestin, a new type of motor protein
    • doi:10.1038/nrm730
    • Dallos P, Fakler B. Prestin, a new type of motor protein. Nat Rev Mol Cell Biol 2002;3:104-11, doi:10.1038/nrm730.
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 104-111
    • Dallos, P.1    Fakler, B.2
  • 25
    • 0036395525 scopus 로고    scopus 로고
    • Biophysics of the cochlea - Biomechanics and ion channelopathies
    • DOI 10.1093/bmb/63.1.59
    • Ashmore J. Biophysics of the cochlea - biomechanics and ion channelopathies. Br Med Bull 2002;63:59-72, doi:10.1093/bmb/63.1.59. (Pubitemid 35175751)
    • (2002) British Medical Bulletin , vol.63 , pp. 59-72
    • Ashmore, J.1
  • 26
    • 0037304347 scopus 로고    scopus 로고
    • Limiting frequency of the cochlear amplifier based on electromotility of outer hair cells
    • Ospeck M, Dong X, Iwasa KH. Limiting frequency of the cochlear amplifier based on electromotility of outer hair cells. Biophys J 2003;84:739-49, doi:10.1016/S0006-3495(03)74893-0. (Pubitemid 36133403)
    • (2003) Biophysical Journal , vol.84 , Issue.2 I , pp. 739-749
    • Ospeck, M.1    Dong, X.-X.2    Iwasa, K.H.3
  • 27
    • 77952887987 scopus 로고    scopus 로고
    • Effect of vestibular labyrinth destruction on endocochlear potential and potassium concentration of the cochlea
    • doi:10.1016/j.heares.2009.12.027
    • Ikeda R, Nakaya K, Yamezaki M, et al. Effect of vestibular labyrinth destruction on endocochlear potential and potassium concentration of the cochlea. Hear Res 2010, doi:10.1016/j.heares.2009.12.027.
    • (2010) Hear Res
    • Ikeda, R.1    Nakaya, K.2    Yamezaki, M.3
  • 28
    • 34447530916 scopus 로고    scopus 로고
    • Mitochondrial tRNA mutations. Clinical and functional perturbations
    • Zifa E, Giannouli S, Theotokis P, et al. Mitochondrial tRNA mutations. Clinical and functional perturbations. RNA Biol 2007;4: 38-66.
    • (2007) RNA Biol , vol.4 , pp. 38-66
    • Zifa, E.1    Giannouli, S.2    Theotokis, P.3
  • 29
    • 38949120469 scopus 로고    scopus 로고
    • Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease
    • DOI 10.1002/mus.20917
    • Scaglia F, Wong LJC. Human mitochondrial transfer RNAs: role of mathogenic mutation in disease. Muscle Nerve 2008;37:150-71, doi:10.1002/mus.20917. (Pubitemid 351214161)
    • (2008) Muscle and Nerve , vol.37 , Issue.2 , pp. 150-171
    • Scaglia, F.1    Wong, L.-J.C.2
  • 30
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • doi:10.1002/ajmg.1380
    • Thorburn DR, Dahl HHM. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001;106:102-14, doi:10.1002/ajmg.1380.
    • (2001) Am J Med Genet , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.M.2
  • 31
    • 37349079460 scopus 로고    scopus 로고
    • Purinergic signaling in the inner ear
    • DOI 10.1016/j.heares.2007.09.006, PII S0378595507002341
    • Lee JH, Marcus DC. Purinergic signaling in the inner ear. Hear Res 2008;235:1-7, doi:10.1016/j.heares.2007.09.006. (Pubitemid 350297665)
    • (2008) Hearing Research , vol.235 , Issue.1-2 , pp. 1-7
    • Lee, J.H.1    Marcus, D.C.2
  • 32
    • 0141729463 scopus 로고    scopus 로고
    • Lateral wall histopathology and endocochlear potential in the noise-damaged mouse cochlea
    • DOI 10.1007/s10162-002-3036-4
    • Hirose K, Liberman MC. Lateral wall histopathology and endocochlear potential in the noise-damaged mouse cochlea. J Assoc Res Otolaryngol 2003;4:339-52, doi:10.1007/s10162-002-3036-4. (Pubitemid 37187813)
    • (2003) JARO - Journal of the Association for Research in Otolaryngology , vol.4 , Issue.3 , pp. 339-352
    • Hirose, K.1    Liberman, M.C.2
  • 33
    • 0036024983 scopus 로고    scopus 로고
    • Acute ischemia causes "darkcell" change of strial marginal cells in gerbil cochlea
    • doi:10.1007/s00441-002-0597-9
    • Ando M, Takeuchi S, Kakigi A, et al. Acute ischemia causes "darkcell" change of strial marginal cells in gerbil cochlea. Cell Tissue Res 2002;309:229-35, doi:10.1007/s00441-002-0597-9.
    • (2002) Cell Tissue Res , vol.309 , pp. 229-235
    • Ando, M.1    Takeuchi, S.2    Kakigi, A.3
  • 34
    • 33847131426 scopus 로고    scopus 로고
    • +-ATPase activity in mitochondria-rich epithelial cells of the inner ear endolymphatic sac
    • doi:10.1007/s00424-006-0166-2
    • +-ATPase activity in mitochondria-rich epithelial cells of the inner ear endolymphatic sac. Pflugers Arch Eur J Physiol 2007;453:905-13, doi:10.1007/s00424-006-0166-2.
    • (2007) Pflugers Arch Eur J Physiol , vol.453 , pp. 905-913
    • Miyashita, T.1    Tatsumi, H.2    Hayakawa, K.3
  • 35
    • 33847055914 scopus 로고    scopus 로고
    • KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels
    • doi:10.1159/000099189
    • Heitzmann D, Koren V, Wagner M, et al. KCNE beta subunits determine pH sensitivity of KCNQ1 potassium channels. Cell Physiol Biochem 2007;19:21-32, doi:10.1159/000099189.
    • (2007) Cell Physiol Biochem , vol.19 , pp. 21-32
    • Heitzmann, D.1    Koren, V.2    Wagner, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.