메뉴 건너뛰기




Volumn 39, Issue 4, 1996, Pages 375-382

Maternally inherited diabetes and deafness: A new diabetes subtype

Author keywords

Genetics; IDDM; Maternally inherited diabetes and deafness; MELAS syndrome; Mitochondria; NIDDM

Indexed keywords

CONTROLLED STUDY; DIAGNOSIS; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HEARING IMPAIRMENT; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MITOCHONDRION; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; REVIEW;

EID: 0029914927     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF00400668     Document Type: Review
Times cited : (166)

References (53)
  • 1
    • 0002806616 scopus 로고
    • Genetics of diabetes mellitus
    • Alberti KGMM, DeFronzo RA, Keen H, Zimmet P (eds) Wiley, Chichester
    • Vadheim CM, Rotter JI (1992) Genetics of diabetes mellitus. In: Alberti KGMM, DeFronzo RA, Keen H, Zimmet P (eds) International textbook of diabetes mellitus. Wiley, Chichester, pp 31-98
    • (1992) International Textbook of Diabetes Mellitus , pp. 31-98
    • Vadheim, C.M.1    Rotter, J.I.2
  • 2
    • 0027933734 scopus 로고
    • A genome-wide search for human type 1 diabetes susceptibility genes
    • Davies JL, Kawagushi Y, Bennett ST et al. (1984) A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371: 130-136
    • (1984) Nature , vol.371 , pp. 130-136
    • Davies, J.L.1    Kawagushi, Y.2    Bennett, S.T.3
  • 3
    • 0016244025 scopus 로고
    • Mild familial diabetes with dominant inheritance
    • Tattersall RB (1974) Mild familial diabetes with dominant inheritance. Q J Med 43: 339-357
    • (1974) Q J Med , vol.43 , pp. 339-357
    • Tattersall, R.B.1
  • 4
    • 0025773195 scopus 로고
    • Human liver glucokinase gene: Cloning and sequence determination of two alternatively spliced cDNAs
    • Tanizawa UY, Karanyi LI, Welling CM, Permutt MA (1991) Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs. Proc Natl Acad Sci USA 88: 7294-7297
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 7294-7297
    • Tanizawa, U.Y.1    Karanyi, L.I.2    Welling, C.M.3    Permutt, M.A.4
  • 6
    • 0026608764 scopus 로고
    • Close linkage of glucokinase locus on chromosome 7 p to early-onset non-insulin dependent diabetes mellitus
    • Froguel Ph, Vaxilliaire M, Sun F et al. (1992) Close linkage of glucokinase locus on chromosome 7 p to early-onset non-insulin dependent diabetes mellitus. Nature 356: 162-164
    • (1992) Nature , vol.356 , pp. 162-164
    • Froguel, Ph.1    Vaxilliaire, M.2    Sun, F.3
  • 7
    • 0026583193 scopus 로고
    • Linkage of type 2 diabetes to the glucokinase gene
    • Hattersley AT, Turner RC, Permutt MA et al. (1992) Linkage of type 2 diabetes to the glucokinase gene. Lancet 339: 1307-1310
    • (1992) Lancet , vol.339 , pp. 1307-1310
    • Hattersley, A.T.1    Turner, R.C.2    Permutt, M.A.3
  • 8
    • 0026562918 scopus 로고
    • Nonsense mutations in the glucokinase gene causes early-onset non-insulin dependent diabetes mellitus
    • Vionet N, Stoffel M, Takeda J et al. (1992) Nonsense mutations in the glucokinase gene causes early-onset non-insulin dependent diabetes mellitus. Nature 356: 721-722
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionet, N.1    Stoffel, M.2    Takeda, J.3
  • 9
    • 0026639928 scopus 로고
    • Human glucokinase gene: Isolation, characterization and identification of two missense mutations linked to early-onset non-insulin dependent (type 2) diabetes mellitus
    • Stoffel M, Froguel Ph, Takeda J et al. (1992) Human glucokinase gene: isolation, characterization and identification of two missense mutations linked to early-onset non-insulin dependent (type 2) diabetes mellitus. Proc Natl Acad Sci USA 89: 7698-7702
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 7698-7702
    • Stoffel, M.1    Froguel, Ph.2    Takeda, J.3
  • 10
    • 0026937234 scopus 로고
    • Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
    • Stoffel M, Patel P, Lo YMD et al. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nature Genet 2: 153-156
    • (1992) Nature Genet , vol.2 , pp. 153-156
    • Stoffel, M.1    Patel, P.2    Lo, Y.M.D.3
  • 11
    • 0026032055 scopus 로고
    • Gene for non-insulin dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q
    • Bell GI, Xiang K, Newman M V et al. (1991) Gene for non-insulin dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci USA 88: 1484-1488
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 1484-1488
    • Bell, G.I.1    Xiang, K.2    Newman, M.V.3
  • 12
    • 0028907342 scopus 로고
    • A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
    • Vaxillaire M, Boccio V, Phillipi C et al. (1995) A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nature Genet 9: 418-423
    • (1995) Nature Genet , vol.9 , pp. 418-423
    • Vaxillaire, M.1    Boccio, V.2    Phillipi, C.3
  • 13
    • 0023896248 scopus 로고
    • Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance
    • Kadowaki T, Bevins CL, Cama, A et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 240: 787-790
    • (1988) Science , vol.240 , pp. 787-790
    • Kadowaki, T.1    Bevins, C.L.2    Cama, A.3
  • 14
    • 0024436947 scopus 로고
    • A leucine to proline mutation in the insulin receptor in a family with insulin resistance
    • Klinkhamer MP, Groen NA, Van der Zon GCM et al. (1989) A leucine to proline mutation in the insulin receptor in a family with insulin resistance. EMBO J 8: 2503-2507
    • (1989) EMBO J , vol.8 , pp. 2503-2507
    • Klinkhamer, M.P.1    Groen, N.A.2    Van Der Zon, G.C.M.3
  • 15
    • 0026761432 scopus 로고
    • Mutations in the insulin receptor gene
    • Taylor SI, Cama A, Accili D et al. (1992) Mutations in the insulin receptor gene. Endocrine Rev 13: 566-595
    • (1992) Endocrine Rev , vol.13 , pp. 566-595
    • Taylor, S.I.1    Cama, A.2    Accili, D.3
  • 16
    • 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
  • 18
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT et al. (1988) Mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy. Science 242: 1427-1430
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 19
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 20
    • 0029071513 scopus 로고
    • Mitochondrial DNA mutations in human degenerative diseases and aging
    • Wallace DC, Shoffner JM, Trounce I et al. (1995) Mitochondrial DNA mutations in human degenerative diseases and aging. Biochem Biophys Acta 1271: 141-151
    • (1995) Biochem Biophys Acta , vol.1271 , pp. 141-151
    • Wallace, D.C.1    Shoffner, J.M.2    Trounce, I.3
  • 21
    • 0028833524 scopus 로고
    • An autosomal locus predisposing to deletions of mitochondrial DNA
    • Suomalainen A, Kaukonen J, Amati P et al. (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nature Genet 9: 146-151
    • (1995) Nature Genet , vol.9 , pp. 146-151
    • Suomalainen, A.1    Kaukonen, J.2    Amati, P.3
  • 22
    • 0028233947 scopus 로고
    • Mitochondrial DNA mutations in diseases of energy metabolism
    • Wallace DC (1994) Mitochondrial DNA mutations in diseases of energy metabolism. J Bioenerg Biomembr 26: 241-250
    • (1994) J Bioenerg Biomembr , vol.26 , pp. 241-250
    • Wallace, D.C.1
  • 23
    • 0027280499 scopus 로고
    • Noninvasive diagnosis of the MELAS syndrome from blood DNA
    • Letter
    • Poulton J, Morten K (1993) Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann Neurol 34: 116 (Letter)
    • (1993) Ann Neurol , vol.34 , pp. 116
    • Poulton, J.1    Morten, K.2
  • 24
    • 0016812904 scopus 로고
    • On possible genetic and epigenetic modes of diabetes transmission
    • Dörner G, Mohnike A, Steindel E (1975) On possible genetic and epigenetic modes of diabetes transmission. Endokrinologie 66: 225-229
    • (1975) Endokrinologie , vol.66 , pp. 225-229
    • Dörner, G.1    Mohnike, A.2    Steindel, E.3
  • 25
    • 0002872316 scopus 로고
    • Empirical risk figures for first degree relatives of non-insulin dependent diabetics
    • Köbberling J, Tattersall R (eds) Academic Press, London
    • Köbberling J, Tillil H (1982) Empirical risk figures for first degree relatives of non-insulin dependent diabetics. In: Köbberling J, Tattersall R (eds) The genetics of diabetes. Academic Press, London, pp 201-209
    • (1982) The Genetics of Diabetes , pp. 201-209
    • Köbberling, J.1    Tillil, H.2
  • 26
    • 0025854490 scopus 로고
    • Importance of maternal history of non-insulin dependent diabetic patients
    • Alcolado JC, Alcolado R (1991) Importance of maternal history of non-insulin dependent diabetic patients. BMJ 302: 1178-1180
    • (1991) BMJ , vol.302 , pp. 1178-1180
    • Alcolado, J.C.1    Alcolado, R.2
  • 29
    • 0025666322 scopus 로고
    • (Leu,UUR) gene associated with the Melas subgroup of mitochondrial encephalomyopathies
    • (Leu,UUR) gene associated with the Melas subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 31
    • 0027474253 scopus 로고
    • Mitochondrial gene mutation and insulin deficient type of diabetes mellitus
    • Kadowaki H, Tobe K, Mori Y et al. (1993) Mitochondrial gene mutation and insulin deficient type of diabetes mellitus. Lancet 341: 893-894
    • (1993) Lancet , vol.341 , pp. 893-894
    • Kadowaki, H.1    Tobe, K.2    Mori, Y.3
  • 32
    • 0028328317 scopus 로고
    • A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
    • Kadowaki T, Kadowaki H, Mori Yet al. (1994) A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. New Eng J Med 330: 962-968
    • (1994) New Eng J Med , vol.330 , pp. 962-968
    • Kadowaki, T.1    Kadowaki, H.2    Mori, Y.3
  • 33
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJM, Sweeney MG et al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.M.2    Sweeney, M.G.3
  • 34
    • 0027477373 scopus 로고
    • Mitochondrial gene mutations and diabetes mellitus
    • Sue CM, Holmeswaker DJ, Morris JGL et al. (1992) Mitochondrial gene mutations and diabetes mellitus. Lancet 341: 437-438
    • (1992) Lancet , vol.341 , pp. 437-438
    • Sue, C.M.1    Holmeswaker, D.J.2    Morris, J.G.L.3
  • 36
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4kb deletion
    • Ballinger SW, Shoffner JM, Hedaya EV et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4kb deletion. Nature Genet 1: 11-15
    • (1992) Nature Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Shoffner, J.M.2    Hedaya, E.V.3
  • 38
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 40
    • 0027939581 scopus 로고
    • (Leu,UUR) gene: A study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS)
    • (Leu,UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS). Diabetologia 37: 818-825
    • (1994) Diabetologia , vol.37 , pp. 818-825
    • Suzuki, S.1    Hinokio, Y.2    Mirai, M.3
  • 42
    • 0028242793 scopus 로고
    • Insulin resistance in mitochondrial gene mutation
    • Kanmor A, Tanaka, K, Umezawa S (1994) Insulin resistance in mitochondrial gene mutation. Diabetes Care 17: 778-779
    • (1994) Diabetes Care , vol.17 , pp. 778-779
    • Kanmor, A.1    Tanaka, K.2    Umezawa, S.3
  • 43
    • 0027268052 scopus 로고
    • Mitochondrial gene mutation in islet cell antibody positive patients who were initially non-insulin-dependent diabetic
    • Oka Y, Katagiri H, Yazaki Y, Murase T, Kobayashi T (1993) Mitochondrial gene mutation in islet cell antibody positive patients who were initially non-insulin-dependent diabetic. Lancet 342: 527-528
    • (1993) Lancet , vol.342 , pp. 527-528
    • Oka, Y.1    Katagiri, H.2    Yazaki, Y.3    Murase, T.4    Kobayashi, T.5
  • 44
    • 0028978105 scopus 로고
    • (Leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies
    • (Leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies. Diabetologia 38: 809-815
    • (1994) Diabetologia , vol.38 , pp. 809-815
    • Yanagisawa, K.1    Uchigata, Y.2    Sanaka, M.3
  • 45
    • 0028104288 scopus 로고
    • Congestive heart failure in mitochondrial diabetes mellitus
    • Letter
    • Yoshida R, Ishida Y, Hozumi T et al. (1994) Congestive heart failure in mitochondrial diabetes mellitus. Lancet 344: 1375 (Letter)
    • (1994) Lancet , vol.344 , pp. 1375
    • Yoshida, R.1    Ishida, Y.2    Hozumi, T.3
  • 46
    • 0027996170 scopus 로고
    • Prevalance of maternally inherited diabetes and deafness in diabetic populations in the Netherlands
    • Hart LMT, Lemkes HHPJ, Heine RJ et al. (1994) Prevalance of maternally inherited diabetes and deafness in diabetic populations in the Netherlands. Diabetologia 37: 1169-1170
    • (1994) Diabetologia , vol.37 , pp. 1169-1170
    • Hart, L.M.T.1    Lemkes, H.H.P.J.2    Heine, R.J.3
  • 47
    • 0027968580 scopus 로고
    • The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan
    • Otabe S, Sakura H, Shimokawa K et al. (1994) The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan. J Clin Endocrinol Metab 79: 768-771
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 768-771
    • Otabe, S.1    Sakura, H.2    Shimokawa, K.3
  • 49
    • 9044254302 scopus 로고
    • Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
    • in press
    • Hart LMT, Jansen JJ, Lemkes HHPJ et al. (1995) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Human Mutation (in press)
    • (1995) Human Mutation
    • Hart, L.M.T.1    Jansen, J.J.2    Lemkes, H.H.P.J.3
  • 50
    • 0026569283 scopus 로고
    • Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
    • Rötig A, Bessis JL, Romero N et al. (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50: 364-370
    • (1992) Am J Hum Genet , vol.50 , pp. 364-370
    • Rötig, A.1    Bessis, J.L.2    Romero, N.3
  • 51
    • 0023850174 scopus 로고
    • Diabetes mellitus in Kearns-Sayre syndrome
    • Tanabe Y, Miyamoto S, Kinoshita Y et al. (1988) Diabetes mellitus in Kearns-Sayre syndrome. Eur Neurol 38: 34-38
    • (1988) Eur Neurol , vol.38 , pp. 34-38
    • Tanabe, Y.1    Miyamoto, S.2    Kinoshita, Y.3
  • 52
    • 0028041246 scopus 로고
    • Transient insulin dependent diabetes mellitus in an HIV-infected patient receiving didanosine
    • Letter
    • Vittecoq D, Zucman D, Auperin I et al. (1994) Transient insulin dependent diabetes mellitus in an HIV-infected patient receiving didanosine. AIDS 8: 1351 (Letter)
    • (1994) AIDS , vol.8 , pp. 1351
    • Vittecoq, D.1    Zucman, D.2    Auperin, I.3
  • 53
    • 0026463740 scopus 로고
    • Does the mitochondrial DNA play a role in the pathogenesis of diabetes?
    • Gerbitz K-D (1992) Does the mitochondrial DNA play a role in the pathogenesis of diabetes? Diabetologia 35: 1181-1186
    • (1992) Diabetologia , vol.35 , pp. 1181-1186
    • Gerbitz, K.-D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.