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Volumn 7, Issue 4, 2012, Pages

Mitochondrial diabetes in children: Seek and you will find it

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; C PEPTIDE; CREATINE KINASE; CYTOCHROME C OXIDASE; GLUCOSE; HEMOGLOBIN A1C; HLA DQ2 ANTIGEN; HLA DQ8 ANTIGEN; INSULIN; LACTATE DEHYDROGENASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 84859850997     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0034956     Document Type: Article
Times cited : (26)

References (40)
  • 1
    • 41749086664 scopus 로고    scopus 로고
    • Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A&G mitochondrial point mutation
    • Murphy R, Turnbull DM, Walker M, Hattersley AT, (2008) Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A&G mitochondrial point mutation. Diabet Med 25: 383-399.
    • (2008) Diabet Med , vol.25 , pp. 383-399
    • Murphy, R.1    Turnbull, D.M.2    Walker, M.3    Hattersley, A.T.4
  • 3
    • 41149084500 scopus 로고    scopus 로고
    • Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
    • Murphy R, Ellard S, Hattersley AT, (2008) Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat Clin Pract Endocrinol Metab 4: 200-213.
    • (2008) Nat Clin Pract Endocrinol Metab , vol.4 , pp. 200-213
    • Murphy, R.1    Ellard, S.2    Hattersley, A.T.3
  • 4
    • 0842285626 scopus 로고    scopus 로고
    • Mitochondrial diabetes: molecular mechanisms and clinical presentation
    • Maassen JA, 'T Hart LM, Van Essen E, Heine RJ, Nijpels G, et al. (2004) Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 53 (Suppl 1): S103-S109.
    • (2004) Diabetes , vol.53 , Issue.SUPPL. 1
    • Maassen, J.A.1    'T Hart, L.M.2    Van Essen, E.3    Heine, R.J.4    Nijpels, G.5
  • 5
    • 0035856942 scopus 로고    scopus 로고
    • Mitochondrial function in normal and diabetic beta-cells
    • Maechler P, Wollheim CB, (2001) Mitochondrial function in normal and diabetic beta-cells. Nature 414: 807-812.
    • (2001) Nature , vol.414 , pp. 807-812
    • Maechler, P.1    Wollheim, C.B.2
  • 6
    • 58849117552 scopus 로고    scopus 로고
    • Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness
    • Crispim D, Estivalet AA, Roisenberg I, Gross JL, Canani LH, (2008) Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. Arq Bras Endocrinol Metab 52: 1228-1235.
    • (2008) Arq Bras Endocrinol Metab , vol.52 , pp. 1228-1235
    • Crispim, D.1    Estivalet, A.A.2    Roisenberg, I.3    Gross, J.L.4    Canani, L.H.5
  • 7
    • 0028258728 scopus 로고
    • Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy
    • Mariotti C, Tiranti V, Carrara F, Dallapiccola B, Di Donato S, et al. (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J Clin Invest 93: 1102-1107.
    • (1994) J Clin Invest , vol.93 , pp. 1102-1107
    • Mariotti, C.1    Tiranti, V.2    Carrara, F.3    Dallapiccola, B.4    Di Donato, S.5
  • 8
    • 34447636774 scopus 로고    scopus 로고
    • Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
    • Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, et al. (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 130: 1894-1904.
    • (2007) Brain , vol.130 , pp. 1894-1904
    • Malfatti, E.1    Bugiani, M.2    Invernizzi, F.3    de Souza, C.F.4    Farina, L.5
  • 9
    • 75149130955 scopus 로고    scopus 로고
    • Diagnosis and Classification of Diabetes Mellitus
    • American Diabetes Association, Erratum in: Diabetes Care. 2010 33:e57
    • American Diabetes Association (2010) Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 33 (Suppl 1): S62-S69 Erratum in: Diabetes Care. 2010 33:e57.
    • (2010) Diabetes Care , vol.33 , Issue.SUPPL. 1
  • 10
    • 0030950962 scopus 로고    scopus 로고
    • Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA
    • Sawada S, Takeda T, Kakigi A, Saito H, Suehiro T, et al. (1997) Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA. Am J Otol 18: 332-335.
    • (1997) Am J Otol , vol.18 , pp. 332-335
    • Sawada, S.1    Takeda, T.2    Kakigi, A.3    Saito, H.4    Suehiro, T.5
  • 11
    • 12944272137 scopus 로고    scopus 로고
    • Prevalence of macular pattern dystrophy in Maternally Inherited Diabetes and Deafness. GEDIAM Group
    • Massin P, Virally-Monod M, Vialettes B, Paques M, Gin H, et al. (1999) Prevalence of macular pattern dystrophy in Maternally Inherited Diabetes and Deafness. GEDIAM Group. Ophthalmology 106: 1821-1827.
    • (1999) Ophthalmology , vol.106 , pp. 1821-1827
    • Massin, P.1    Virally-Monod, M.2    Vialettes, B.3    Paques, M.4    Gin, H.5
  • 13
    • 0347423198 scopus 로고    scopus 로고
    • Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure
    • Chobanian AV, Bakris GL, Black HR, Cushman WC, Green LA, et al. (2003) Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension 42: 1206-1252.
    • (2003) Hypertension , vol.42 , pp. 1206-1252
    • Chobanian, A.V.1    Bakris, G.L.2    Black, H.R.3    Cushman, W.C.4    Green, L.A.5
  • 14
    • 0032868141 scopus 로고    scopus 로고
    • Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
    • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
    • (1999) Nat Genet , vol.23 , pp. 147
    • Andrews, R.M.1    Kubacka, I.2    Chinnery, P.F.3    Lightowlers, R.N.4    Turnbull, D.M.5
  • 15
    • 64249117460 scopus 로고    scopus 로고
    • Isolation of whole mononuclear cells from peripheral blood and cord blood
    • Fuss IJ, Kanof ME, Smith PD, Zola H, (2009) Isolation of whole mononuclear cells from peripheral blood and cord blood. Curr Protoc Immunol 85: 7.1.1-7.1.8.
    • (2009) Curr Protoc Immunol , vol.85 , pp. 1-8
    • Fuss, I.J.1    Kanof, M.E.2    Smith, P.D.3    Zola, H.4
  • 17
    • 34147164476 scopus 로고    scopus 로고
    • Biochemical assays of respiratory chain complex activity
    • In: Pon LA, Schon EA, editors, Elsevier Press, San Diego, USA
    • Kirby DM, Thorburn DR, Turnbull DM, Taylor RW, (2007) Biochemical assays of respiratory chain complex activity. In: Pon LA, Schon EA, editors. Methods in cell biology, 2nd ed pp. 93-119 Elsevier Press, San Diego, USA.
    • (2007) Methods in Cell Biology , pp. 93-119
    • Kirby, D.M.1    Thorburn, D.R.2    Turnbull, D.M.3    Taylor, R.W.4
  • 18
    • 33847611885 scopus 로고    scopus 로고
    • Patients with type 2 diabetes have normal mitochondrial function in skeletal muscle
    • Boushel R, Gnaiger E, Schjerling P, Skovbro M, Kraunsøe R, et al. (2007) Patients with type 2 diabetes have normal mitochondrial function in skeletal muscle. Diabetologia 50: 790-796.
    • (2007) Diabetologia , vol.50 , pp. 790-796
    • Boushel, R.1    Gnaiger, E.2    Schjerling, P.3    Skovbro, M.4    Kraunsøe, R.5
  • 21
    • 33846005805 scopus 로고    scopus 로고
    • Celiac disease: pathogenesis of a model immunogenetic disease
    • Kagnoff MF, (2007) Celiac disease: pathogenesis of a model immunogenetic disease. J Clin Invest 117: 41-49.
    • (2007) J Clin Invest , vol.117 , pp. 41-49
    • Kagnoff, M.F.1
  • 22
    • 20144388176 scopus 로고    scopus 로고
    • The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review
    • Dubé C, Rostom A, Sy R, Cranney A, Saloojee N, et al. (2005) The prevalence of celiac disease in average-risk and at-risk Western European populations: a systematic review. Gastroenterology 128 (Suppl 1): S57-S67.
    • (2005) Gastroenterology , vol.128 , Issue.SUPPL. 1
    • Dubé, C.1    Rostom, A.2    Sy, R.3    Cranney, A.4    Saloojee, N.5
  • 23
    • 0034522769 scopus 로고    scopus 로고
    • Endocrine disorders in two sisters affected by MELAS syndrome
    • Balestri P, Grosso S, (2000) Endocrine disorders in two sisters affected by MELAS syndrome. J Child Neurol 15: 755-758.
    • (2000) J Child Neurol , vol.15 , pp. 755-758
    • Balestri, P.1    Grosso, S.2
  • 24
    • 65549148928 scopus 로고    scopus 로고
    • A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C- peptide secretion, HLA-DR and -DQ status and autoantibody pattern
    • Hosszúfalusi N, Karcagi V, Horváth R, Palik E, Várkonyi J, et al. (2009) A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C- peptide secretion, HLA-DR and -DQ status and autoantibody pattern. Diabetes Metab Res Rev 25: 127-135.
    • (2009) Diabetes Metab Res Rev , vol.25 , pp. 127-135
    • Hosszúfalusi, N.1    Karcagi, V.2    Horváth, R.3    Palik, E.4    Várkonyi, J.5
  • 25
    • 2642536829 scopus 로고    scopus 로고
    • GEDIAM, Mitochondrial Diabetes French Study Group. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD)
    • Guillausseau PJ, Dubois-Laforgue D, Massin P, Laloi-Michelin M, Bellanné-Chantelot C, et al. (2004) GEDIAM, Mitochondrial Diabetes French Study Group. Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). Diabetes Metab 30: 181-186.
    • (2004) Diabetes Metab , vol.30 , pp. 181-186
    • Guillausseau, P.J.1    Dubois-Laforgue, D.2    Massin, P.3    Laloi-Michelin, M.4    Bellanné-Chantelot, C.5
  • 26
    • 64949105223 scopus 로고    scopus 로고
    • Heteroplasmy level of the mitochondrial tRNaLeu (UUR) A3243G mutation in a Chinese family is positively associated with earlier age-of onset and increasing severity of diabetes
    • Zhang S, Tong AL, Zhang Y, Nie M, Li YX, et al. (2009) Heteroplasmy level of the mitochondrial tRNaLeu (UUR) A3243G mutation in a Chinese family is positively associated with earlier age-of onset and increasing severity of diabetes. Chin Med Sci J 24: 20-25.
    • (2009) Chin Med Sci J , vol.24 , pp. 20-25
    • Zhang, S.1    Tong, A.L.2    Zhang, Y.3    Nie, M.4    Li, Y.X.5
  • 27
    • 20344378241 scopus 로고    scopus 로고
    • Molecular mechanisms of mitochondrial diabetes (MIDD)
    • Maassen JA, Janssen GM, 't Hart LM, (2005) Molecular mechanisms of mitochondrial diabetes (MIDD). Ann Med 37: 213-221.
    • (2005) Ann Med , vol.37 , pp. 213-221
    • Maassen, J.A.1    Janssen, G.M.2    't Hart, L.M.3
  • 28
    • 68549130511 scopus 로고    scopus 로고
    • Mitochondrial Diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes
    • Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, et al. (2009) Mitochondrial Diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J Clin Endocrinol Metab 94: 3025-3030.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3025-3030
    • Laloi-Michelin, M.1    Meas, T.2    Ambonville, C.3    Bellanné-Chantelot, C.4    Beaufils, S.5
  • 29
    • 0036300033 scopus 로고    scopus 로고
    • Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome
    • Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, et al. (2002) Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes 51: 2317-2320.
    • (2002) Diabetes , vol.51 , pp. 2317-2320
    • Choo-Kang, A.T.1    Lynn, S.2    Taylor, G.A.3    Daly, M.E.4    Sihota, S.S.5
  • 31
    • 0031727452 scopus 로고    scopus 로고
    • MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
    • Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW, (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 65: 512-517.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 512-517
    • Hanna, M.G.1    Nelson, I.P.2    Morgan-Hughes, J.A.3    Wood, N.W.4
  • 32
    • 54949131798 scopus 로고    scopus 로고
    • Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome
    • Howes T, Madden C, Dasgupta S, Saeed S, Das V, (2008) Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome. J Laryngol Otol 122: 1249-1252.
    • (2008) J Laryngol Otol , vol.122 , pp. 1249-1252
    • Howes, T.1    Madden, C.2    Dasgupta, S.3    Saeed, S.4    Das, V.5
  • 33
    • 34548499092 scopus 로고    scopus 로고
    • Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees
    • Chen J, Yang L, Yang A, Zhu Y, Zhao J, et al. (2007) Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees. Gene 401: 4-11.
    • (2007) Gene , vol.401 , pp. 4-11
    • Chen, J.1    Yang, L.2    Yang, A.3    Zhu, Y.4    Zhao, J.5
  • 34
    • 21144457788 scopus 로고    scopus 로고
    • Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy
    • Qian Y, Zhou X, Hu Y, Tong Y, Li R, et al. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 332: 614-621.
    • (2005) Biochem Biophys Res Commun , vol.332 , pp. 614-621
    • Qian, Y.1    Zhou, X.2    Hu, Y.3    Tong, Y.4    Li, R.5
  • 35
    • 55549121904 scopus 로고    scopus 로고
    • Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy
    • Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, et al. (2008) Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy. Biochem Biophys Res Commun 377: 379-383.
    • (2008) Biochem Biophys Res Commun , vol.377 , pp. 379-383
    • Elstner, M.1    Schmidt, C.2    Zingler, V.C.3    Prokisch, H.4    Bettecken, T.5
  • 37
    • 0036947020 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery
    • Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S, (2002) Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery. Graefes Arch Clin Exp Ophthalmol 240: 758-764.
    • (2002) Graefes Arch Clin Exp Ophthalmol , vol.240 , pp. 758-764
    • Leo-Kottler, B.1    Luberichs, J.2    Besch, D.3    Christ-Adler, M.4    Fauser, S.5
  • 38
    • 84858299121 scopus 로고    scopus 로고
    • Novel mitochondrial DNA mutations responsible for maternally inherited non-syndromic hearing loss
    • In press
    • Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Herbert-Chatelain E, et al. (2012) Novel mitochondrial DNA mutations responsible for maternally inherited non-syndromic hearing loss. Hum Mutat In press.
    • (2012) Hum Mutat
    • Gutiérrez, C.N.1    Pertuiset, C.2    Dumon, E.3    Börlin, M.4    Herbert-Chatelain, E.5
  • 39
    • 84859865028 scopus 로고    scopus 로고
    • A novel instable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness
    • Bannwarth S, Abbassi M, Valéro M, Fragaki K, Dubois N, et al. (2011) A novel instable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. Diabetes Care 34 (12): 2591-3.
    • (2011) Diabetes Care , vol.34 , Issue.12 , pp. 2591-2593
    • Bannwarth, S.1    Abbassi, M.2    Valéro, M.3    Fragaki, K.4    Dubois, N.5
  • 40
    • 0037406049 scopus 로고    scopus 로고
    • Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
    • Carelli V, Giordano C, d'Amati G, (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 19 (5): 257-62.
    • (2003) Trends Genet , vol.19 , Issue.5 , pp. 257-262
    • Carelli, V.1    Giordano, C.2    d'Amati, G.3


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