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Volumn 531, Issue , 2003, Pages 19-36

Mitochondrial genome and susceptibility to diabetes mellitus

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; CYTOSINE; GLUCOKINASE; GLUTAMIC ACID TRANSFER RNA; GLUTAMINE TRANSFER RNA; INSULIN; INSULIN RECEPTOR; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; NUCLEAR FACTOR I; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

EID: 0042385142     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-0059-9_2     Document Type: Conference Paper
Times cited : (6)

References (53)
  • 1
    • 0025854490 scopus 로고
    • Importance of maternal history of non-insulin dependent diabetic patients
    • Alcolado, J.C., and Alcolado, R., 1991, Importance of maternal history of non-insulin dependent diabetic patients. Br. Med. J. 302: 1178-1180.
    • (1991) Br. Med. J. , vol.302 , pp. 1178-1180
    • Alcolado, J.C.1    Alcolado, R.2
  • 3
    • 84913160174 scopus 로고
    • Function of the proteins encoded in human mitochondrial DNA
    • F. Vogel and K. Sperling, eds., Springer-Verlag, Berlin
    • Attardi, G., Chomyn, A., and Mariottini, P., 1987, Function of the proteins encoded in human mitochondrial DNA. In Human Genetics F. Vogel and K. Sperling, eds., Springer-Verlag, Berlin, pp. 165-176.
    • (1987) Human Genetics , pp. 165-176
    • Attardi, G.1    Chomyn, A.2    Mariottini, P.3
  • 5
  • 6
    • 0029017083 scopus 로고
    • Length heteroplasmy in the first hypervariable segment of the human mitochondrial DNA control region
    • Bendall, K., and Sykes, B., 1995, Length heteroplasmy in the first hypervariable segment of the human mitochondrial DNA control region. Am. J. Hum. Genet. 57: 248-256.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 248-256
    • Bendall, K.1    Sykes, B.2
  • 8
    • 0033135836 scopus 로고    scopus 로고
    • Mitochondrial 16189 variant, maternal restraint of fetal growth and impaired glucose tolerance in type 2 diabetes
    • Casteels, K., Ong, K., Philips, D., Bendall, H., Pembrey, M., the ALSPAC study team, Poulton, J., and Dunger, D., 1999, Mitochondrial 16189 variant, maternal restraint of fetal growth and impaired glucose tolerance in type 2 diabetes. Lancet 353: 1499-1500.
    • (1999) Lancet , vol.353 , pp. 1499-1500
    • Casteels, K.1    Ong, K.2    Philips, D.3    Bendall, H.4    Pembrey, M.5    Poulton, J.6    Dunger, D.7
  • 10
    • 0036300033 scopus 로고    scopus 로고
    • Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome
    • Choo-Kang, A.T., Lynn, S., Taylor, G.A., Daly, M.E., Sihota, S.S., Wardell, T.M., Chinnery, P.F., Turnbull, D.M., and Walker, M., 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    Wardell, T.M.6    Chinnery, P.F.7    Turnbull, D.M.8    Walker, M.9
  • 14
    • 0030046495 scopus 로고    scopus 로고
    • Mitochondria and diabetes. Genetic, biochemical, and clinical implication of the cellular energy circuit
    • Gerbitz, K., Gempel, K., and Brdiczka, D., 1996, Mitochondria and diabetes. Genetic, biochemical, and clinical implication of the cellular energy circuit. Diabetes 46: 113-126.
    • (1996) Diabetes , vol.46 , pp. 113-126
    • Gerbitz, K.1    Gempel, K.2    Brdiczka, D.3
  • 15
    • 0027410865 scopus 로고
    • Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: Implications for structure/function relationships
    • Gidh-Jain, M., Takeda, J., Xu, L.Z., Lange, A.J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., et al., 1993, Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships. Proc. Natl. Acad. Sci. USA 90: 1932-1936.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 1932-1936
    • Gidh-Jain, M.1    Takeda, J.2    Xu, L.Z.3    Lange, A.J.4    Vionnet, N.5    Stoffel, M.6    Froguel, P.7    Velho, G.8    Sun, F.9    Cohen, D.10
  • 16
    • 0026004614 scopus 로고
    • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
    • Goto, Y., Nonaka, I., and Horai, S., 1991, A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem. Biophys. Acta 1097: 238-240.
    • (1991) Biochem. Biophys. Acta , vol.1097 , pp. 238-240
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 17
    • 0029072327 scopus 로고
    • Clinical features of MELAS and mitochondrial DNA mutations
    • Goto, Y., 1995, Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 3: S107-112.
    • (1995) Muscle Nerve , vol.3
    • Goto, Y.1
  • 19
    • 0034926430 scopus 로고    scopus 로고
    • A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy
    • Hsieh, R.H., Li, J.Y., Pang, C.Y., and Wei, Y.H., 2001, A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy. J. Biomed. Sci. 8: 328-335
    • (2001) J. Biomed. Sci. , vol.8 , pp. 328-335
    • Hsieh, R.H.1    Li, J.Y.2    Pang, C.Y.3    Wei, Y.H.4
  • 20
    • 0036919881 scopus 로고    scopus 로고
    • A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals
    • Imaizumi, K., Parsons, T.J., Yoshino, M., and Holland, M.M., 2002, A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int. J. Legal. Med. 116: 68-73.
    • (2002) Int. J. Legal. Med. , vol.116 , pp. 68-73
    • Imaizumi, K.1    Parsons, T.J.2    Yoshino, M.3    Holland, M.M.4
  • 21
    • 0028415823 scopus 로고
    • Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA leu (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies
    • Jean-Francois, M.J.B., Lertrit, P., Berkovic, S.F., Crimmins, D., Morris, J., Marzuki, S. and Byrne, E., 1994, Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA leu (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Aust. NZ. J. Med. 24: 188-193.
    • (1994) Aust. NZ. J. Med. , vol.24 , pp. 188-193
    • Jean-Francois, M.J.B.1    Lertrit, P.2    Berkovic, S.F.3    Crimmins, D.4    Morris, J.5    Marzuki, S.6    Byrne, E.7
  • 24
    • 0029873574 scopus 로고    scopus 로고
    • Genetics of non-insulin-dependent (type II) diabetes mellitus
    • Kahn, C.R., Vicent, D., and Doria, A., 1996, Genetics of non-insulin-dependent (type II) diabetes mellitus. Annu. Rev. Med. 47: 509-531.
    • (1996) Annu. Rev. Med. , vol.47 , pp. 509-531
    • Kahn, C.R.1    Vicent, D.2    Doria, A.3
  • 25
    • 0036360796 scopus 로고    scopus 로고
    • The prevalence of the mitochondrial DNA 16189 variant in non diabetic Korean adults and its association with higher fasting glucose and body mass index
    • Kim, J.H., Park, K.S., Cho, Y.M., Kang, B.S., Kim, S.K., Joen, H.J., Kim, S.Y., and Lee, H.K., 2002, The prevalence of the mitochondrial DNA 16189 variant in non diabetic Korean adults and its association with higher fasting glucose and body mass index. Diabet. Med. 19: 681-684.
    • (2002) Diabet. Med. , vol.19 , pp. 681-684
    • Kim, J.H.1    Park, K.S.2    Cho, Y.M.3    Kang, B.S.4    Kim, S.K.5    Joen, H.J.6    Kim, S.Y.7    Lee, H.K.8
  • 26
    • 0034909011 scopus 로고    scopus 로고
    • Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus
    • Klemm, T., Neumann, S., Trutzsch, B., Pistrosch, F., Hanefeld, M., and Paschke, R., 2001, Search for mitochondrial DNA mutation at position 3243 in German patients with a positive family history of maternal diabetes mellitus. Exp. Clin. Endocrinol. Diabetes 109: 283-287.
    • (2001) Exp. Clin. Endocrinol. Diabetes , vol.109 , pp. 283-287
    • Klemm, T.1    Neumann, S.2    Trutzsch, B.3    Pistrosch, F.4    Hanefeld, M.5    Paschke, R.6
  • 28
    • 0029161867 scopus 로고
    • Point mutation of the mitochondrial tRNA (leu) gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness
    • Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J.D., Reyer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J.P., Largilliere, C., and Lombes, A., 1995, Point mutation of the mitochondrial tRNA (leu) gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J. Med. Genet. 32: 654-656.
    • (1995) J. Med. Genet. , vol.32 , pp. 654-656
    • Manouvrier, S.1    Rotig, A.2    Hannebique, G.3    Gheerbrandt, J.D.4    Reyer-Legrain, G.5    Munnich, A.6    Parent, M.7    Grunfeld, J.P.8    Largilliere, C.9    Lombes, A.10
  • 29
    • 0029881588 scopus 로고    scopus 로고
    • Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
    • Marchington, D.R., Poulton, J., Sellar, A., and Holt, I.J., 1996, Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum. Mol. Genet. 5: 473-479.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 473-479
    • Marchington, D.R.1    Poulton, J.2    Sellar, A.3    Holt, I.J.4
  • 30
    • 0036221005 scopus 로고    scopus 로고
    • Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNA
    • Malik, S., Sudoyo, H., Pramoonjago, P., Sukama, T., Darwis, D., and Marzuki, S., 2002a, Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNA. J. Hum. Genet. 47: 122-130.
    • (2002) J. Hum. Genet. , vol.47 , pp. 122-130
    • Malik, S.1    Sudoyo, H.2    Pramoonjago, P.3    Sukama, T.4    Darwis, D.5    Marzuki, S.6
  • 31
    • 0036559590 scopus 로고    scopus 로고
    • Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA
    • Malik, S., Sudoyo, H., Pramoonjago, P., Suryadi, H., Sukarna, T., Nyunting, M., Sahiratmadja, E., and Marzuki, S., 2002b, Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA. Hum. Genet. 110: 402-411.
    • (2002) Hum. Genet. , vol.110 , pp. 402-411
    • Malik, S.1    Sudoyo, H.2    Pramoonjago, P.3    Suryadi, H.4    Sukarna, T.5    Nyunting, M.6    Sahiratmadja, E.7    Marzuki, S.8
  • 32
    • 0037237101 scopus 로고    scopus 로고
    • Non-syndromic sensorineural deafness in a Balinese family associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA
    • Malik, S., Sudoyo, H., Sasmono, T., Winata, S., Arhya, I.N., Pramoonjago, P., Sudana, W., and Marzuki, S., 2002c, Non-syndromic sensorineural deafness in a Balinese family associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA. J. Hum. Genet., 2003
    • (2002) J. Hum. Genet. , pp. 2003
    • Malik, S.1    Sudoyo, H.2    Sasmono, T.3    Winata, S.4    Arhya, I.N.5    Pramoonjago, P.6    Sudana, W.7    Marzuki, S.8
  • 33
    • 0030067124 scopus 로고    scopus 로고
    • Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm
    • Matschinsky, F.M., 1996, Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm. Diabetes 45: 223-241.
    • (1996) Diabetes , vol.45 , pp. 223-241
    • Matschinsky, F.M.1
  • 34
    • 0033000423 scopus 로고    scopus 로고
    • The thrifty genotype in 1998
    • Neel, J.V., 1999, The thrifty genotype in 1998. Nutr. Rev. 57: S2-S7.
    • (1999) Nutr. Rev. , vol.57
    • Neel, J.V.1
  • 36
    • 0030567968 scopus 로고    scopus 로고
    • A G to A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus
    • Odawara, M., Sasaki, K., and Yamashita, K., 1996a, A G to A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus. Biochem. Biophys. Res. Commun. 227: 147-151.
    • (1996) Biochem. Biophys. Res. Commun. , vol.227 , pp. 147-151
    • Odawara, M.1    Sasaki, K.2    Yamashita, K.3
  • 37
    • 0029742667 scopus 로고    scopus 로고
    • Involvement of mitochondrial gene abnormalities in the pathogenesis of diabetes mellitus
    • Odawara, M., 1996b, Involvement of mitochondrial gene abnormalities in the pathogenesis of diabetes mellitus. Ann. N.Y. Acad. Sci. 786: 72-81.
    • (1996) Ann. N.Y. Acad. Sci. , vol.786 , pp. 72-81
    • Odawara, M.1
  • 39
    • 15644370476 scopus 로고    scopus 로고
    • A common mitochondrial DNA variant is associated with insulin resistance in adult life
    • Poulton, J., Scott Brown, M., Cooper, A., Marchington, D.R., and Phillips, D.I.W., 1998a, A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 41: 54-58.
    • (1998) Diabetologia , vol.41 , pp. 54-58
    • Poulton, J.1    Scott Brown, M.2    Cooper, A.3    Marchington, D.R.4    Phillips, D.I.W.5
  • 40
    • 0031731693 scopus 로고    scopus 로고
    • Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype?
    • Poulton, J., Marchington, D., Brown, M.S., Phillips, D., and Hagelberg, E., 1998b, Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype? Trends Genet. 14: 385-387.
    • (1998) Trends Genet. , vol.14 , pp. 385-387
    • Poulton, J.1    Marchington, D.2    Brown, M.S.3    Phillips, D.4    Hagelberg, E.5
  • 41
    • 0037096760 scopus 로고    scopus 로고
    • Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
    • Poulton, J., Luan, J., Macaulay, V., Hennings, S., Mitchell, J., and Wareham, N.J., 2002, Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum. Mol. Genet. 11: 1581-1583.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1581-1583
    • Poulton, J.1    Luan, J.2    Macaulay, V.3    Hennings, S.4    Mitchell, J.5    Wareham, N.J.6
  • 44
    • 0031441486 scopus 로고    scopus 로고
    • The mitochondrial tRNA [Leu (UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population
    • Smith, P.R., Dronsfield, M.J., Mijovic, C.H., Hattersley, A.T., Yeung, V.T., Cockram, C., Chan, C.J., Barnett, A.H., and Brain, S.C., 1997, The mitochondrial tRNA [Leu (UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population. Diabet. Med. 14: 1026-1031.
    • (1997) Diabet. Med. , vol.14 , pp. 1026-1031
    • Smith, P.R.1    Dronsfield, M.J.2    Mijovic, C.H.3    Hattersley, A.T.4    Yeung, V.T.5    Cockram, C.6    Chan, C.J.7    Barnett, A.H.8    Brain, S.C.9
  • 45
    • 0029966749 scopus 로고    scopus 로고
    • Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN 6
    • Soejima, A., Inoue, K., Takai, D., Kaneko, M., Ishihara, H., Oka, Y., and Hayashi, J., 1996, Mitochondrial DNA is required for regulation of glucose-stimulated insulin secretion in a mouse pancreatic beta cell line, MIN 6. J. Biol. Chem. 271: 26194-26199.
    • (1996) J. Biol. Chem. , vol.271 , pp. 26194-26199
    • Soejima, A.1    Inoue, K.2    Takai, D.3    Kaneko, M.4    Ishihara, H.5    Oka, Y.6    Hayashi, J.7
  • 46
    • 0036947414 scopus 로고    scopus 로고
    • Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy
    • in press
    • Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., and Marzuki, S., 2002, Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy. J. Hum. Genet, in press.
    • (2002) J. Hum. Genet
    • Sudoyo, H.1    Suryadi, H.2    Lertrit, P.3    Pramoonjago, P.4    Lyrawati, D.5    Marzuki, S.6
  • 47
    • 0030030748 scopus 로고    scopus 로고
    • Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus
    • Thomas AW, Edwards A, Sherratt EJ, Majid A, Gagg J, and Alcolado JC. 1996. Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. J Med Genet. 33: 253-255.
    • (1996) J. Med. Genet. , vol.33 , pp. 253-255
    • Thomas, A.W.1    Edwards, A.2    Sherratt, E.J.3    Majid, A.4    Gagg, J.5    Alcolado, J.C.6
  • 48
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analysis suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutation 11778 and 14484
    • Torroni, A., Petrozzi, M., D'Urbano, L., Sellito, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A., and Scozzari, R., 1997, Haplotype and phylogenetic analysis suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutation 11778 and 14484. Am. J. Hum. Genet. 60: 1107-1121.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3    Sellito, D.4    Zeviani, M.5    Carrara, F.6    Carducci, C.7    Leuzzi, V.8    Carelli, V.9    Barboni, P.10    De Negri, A.11    Scozzari, R.12
  • 51
    • 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
    • Van den Ouweland, J.M., Lemke, H.H., Trembath, R.C., Ross, R., Velho, G., Cohen, D., Froguel, P., and Maassen, J.A., 1994, 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 43: 746-751.
    • (1994) Diabetes , vol.43 , pp. 746-751
    • Van Den Ouweland, J.M.1    Lemke, H.H.2    Trembath, R.C.3    Ross, R.4    Velho, G.5    Cohen, D.6    Froguel, P.7    Maassen, J.A.8
  • 52
    • 0032833421 scopus 로고    scopus 로고
    • Mitochondrial DNA variation in human evolution and diseases
    • Wallace, D.C., Brown, M.D. and Lott, M.T., 1999, Mitochondrial DNA variation in human evolution and diseases. Gene 238: 211-230.
    • (1999) Gene , vol.238 , pp. 211-230
    • Wallace, D.C.1    Brown, M.D.2    Lott, M.T.3
  • 53
    • 0031042816 scopus 로고    scopus 로고
    • MODY genes and mutations in hepatocyte nuclear factors
    • Yki-Jarvinen, H., 1997, MODY genes and mutations in hepatocyte nuclear factors. Lancet 349: 516-517.
    • (1997) Lancet , vol.349 , pp. 516-517
    • Yki-Jarvinen, H.1


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