Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects

Journal of Clinical Investigation

Volumn 98, Issue 8, 1996, Pages 1755-1761

  Velho, Gilberto ^b   Petersen, Kitt Falk ^a   Perseghin, Gianluca ^a   Hwang, Jong Hee ^a   Rothman, Douglas L ^a   Pueyo, Maria E ^b   Cline, Gary W ^a   Froguel, Philippe ^c   Shulman, Gerald I ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SAINT LOUIS HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

glucokinase; glucokinase gene mutations; gluconeogenesis; hepatic glycogen; nuclear magnetic resonance

Indexed keywords

GLUCOKINASE; GLUCOSE; GLYCOGEN; GLYCOSYLATED HEMOGLOBIN; PARACETAMOL;

ADULT; ARTICLE; CALORIC INTAKE; CARBON NUCLEAR MAGNETIC RESONANCE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; GLUCONEOGENESIS; GLYCOGEN LIVER LEVEL; GLYCOGEN SYNTHESIS; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; PRIORITY JOURNAL;

EID: 0029864561     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118974     Document Type: Article

References (34)

1. Froguel, P., H. Zouali, N. Vionnet, G. Velho, M. Vaxillaire, F. Sun, S. Lesage, M. Stoffel, J. Takeda, P. Passa et al. 1993. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N. Engl. J. Med. 328:697-702.
2. Hager, J., H. Blanché, F. Sun, N.V. Vaxillaire, W. Poller, D. Cohen, P. Czernichow, G. Velho, J.J. Robert, N. Cohen et al. 1994. Six mutations in the glucokinase gene identified in MODY using a nonradioactive sensitive screening technique. Diabetes. 43:730-733.
3. Stoffel, M., P. Froguel, J. Takeda, H. Zouali, N. Vionnet, S. Nishi, I.T. Weber, R.W. Harrison, S.J. Pilkis, S. Lesage 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.
4. Sun, F., B. Knebelmann, M.E. Pueyo, H. Zouali, S. Lesage, M. Vaxillaire, P. Passa, D. Cohen, G. Velho, C. Antignac et al. 1993. Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity onset diabetes of the young. J. Clin. Invest. 92:1174-1180.
5. Vionnet, N., M. Stoffel, J. Takeda, K. Yasuda, G.I. Bell, H. Zouali, S. Lesage, G. Velho, F. Iris, P. Passa et al. 1992. Nonsense mutation in the glucokinase gene causes early-onset non insulin dependent diabetes mellitus. Nature (Lond.). 356:721-722.
6. Zouali, H., M. Vaxillaire, S. Lesage, M. Vaxillaire, P. Passa, D. Cohen, G. Velho, C. Antignac et al. 1993. Linkage analysis and molecular scanning of the glucokinase gene in NIDDM families. Diabetes. 42:1238-1245.
7. Matschinsky, F.M. 1990. Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. Diabetes. 39:647-652.
8. Matschinsky, F., Y. Liang, P. Kesavan, L. Wang, P. Froguel, G. Velho, D. Cohen, M.A. Permutt, Y. Tanizawa, T.L. Jetton et al. 1993. Glucokinase as pancreatic beta-cell glucose sensor and diabetes gene. J. Clin. Invest. 92:2092-2098.
9. Gidh-Jain, M., J. Takeda, L.Z. Xu, A.J. Lange, N. Vionnet, M. Stoffel, P. Froguel, G. Velho, F. Sun, D. Cohen 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.
10. Takeda, J., M. Gidh-Jain, L.Z. Xu, P. Froguel, G. Velho, M. Vaxillaire, D. Cohen, F. Shimada, H. Makino, S. Nishi et al. 1993. Structure/Function studies of human glucokinase: enzymatic properties of sequence polymorphism, mutations associated with diabetes, and other site-directed mutants. J. Biol. Chem. 268:15200-15204.
11. Sturis, J., I.J. Kurland, M.M. Byrne, E. Mosekilde, P. Froguel, S.J. Pilkis, G.I. Bell, and K.S. Polansky. 1994. Compensation in pancreatic beta-cell function in subjects with glucokinase mutations. Diabetes. 43:718-723.
12. Byrne, M.M., J. Sturis, K. Clément, N. Vionnet, M.E. Pueyo, M. Stoffel, J. Takeda, P. Passa, D. Cohen, G.I. Bell et al. 1994. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J. Clin. Invest. 93:1120-1130.
13. Velho, G., P. Froguel, K. Clément, M.E. Pueyo, B. Rakotoambinina, H. Zonali, P. Passa, D. Cohen, and J.J. Robert. 1992. Primary pancreatic beta-cell secretory defect caused by mutations in the glucokinase in kindreds of maturity onset diabetes of the young. Lancet. 340:444-448.
14. 13C NMR. Science (Wash. DC). 254:573-576.
15. 13C nuclear magnetic resonance study. J. Clin. Invest. 90:1323-1327.
16. Shulman, G.I., G. Cline, W.C. Schumann, V. Chandramouli, K. Kumaran, and B.R. Landau. 1990. Quantitative comparison of pathways of hepatic glycogen repletion in fed and fasted humans. Am. J. Physiol. 259:E335-E341.
17. Fajans, S.S. 1990. Scope and heterogeneous nature of MODY. Diabetes Care. 13:49-64.
18. WHO Study Group on Diabetes Mellitus. Report. Tech. Rep. Ser. WHO. Geneva World Health Org. 1985.
19. Tchobroutsky, G. 1991. Blood glucose levels in diabetic and non diabetic subjects. Diabetologia. 34:67-73.
20. 13C nuclear magnetic resonance spectroscopy study. J. Clin. Invest. 95:783-787.
21. Haase, A., J. Frahm, D. Mattaei, W. Häniche, and K.D. Merboldt 1986. FLASH imaging. Rapid NMR imaging using low flip-angle pulses. J. Magn. Reson. 67:258-266.
22. Ordidge, R.J., J. Connelly, and A.B. Lohman. 1986. Image-selected in vivo spectroscopy (ISIS): a new technique for spatially NMR spectroscopy. J. Magn. Reson. 66:283-294.
23. Silver, M., R. Joseph, C. Chen, V. Sank, and D. Hoult. 1984. Selective population inversion in NMR. Nature (Lond.). 310:681-683.
24. Wolfe, R.R. 1992. Radioactive and stable isotope tracers in biomedicine: principles and practice of kinetic analysis. Wiley-Liss, New York. 417-438.
25. Magnuson, M.A., and K.D. Shelton. 1989. An alternate promoter in the glucokinase gene is active in the pancreatic beta-cell. J. Biol. Chem. 264:15936-15942.
26. Iynedjian, P.B., P.R. Pilot, T. Nouspikel, J.L. Milburn, C. Quade, S. Huges, C. Ucla, and C.B. Neugard. 1989. Differential expression and regulation of the glucokinase gene in liver and islets of Langerhans. Proc. Natl. Acad. Sci. USA. 86:7838-7842.
27. Bali, D., A. Svetlanov, H.W. Lee, D. Fusco-DeMane, M. Leiser, B. Li, N. Barzilai, M. Surana, H. Hou, N. Fleischer et al. 1995. Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. J. Biol. Chem. 270:21464-21467.
28. Grupe, A., B. Hultgren, A. Ryan, Y.H. Ma, M. Bauer, and T.A. Stewart, 1995. Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell. 83:69-78.
29. Terauchi, Y., H. Sakura, K. Yasuda, K. Iwamoto, N. Takahashi, K. Ito, H. Kasai, H. Suzuki, O. Ueda, N. Kamada et al. 1995. Pancreatic beta-cell-specific targeted disruption of glucokinase gene: diabetes mellitus due to defective insulin secretion to glucose. J. Biol. Chem. 270:30253-30256.
30. Roden, M., G. Perseghin, K.F. Petersen, J. Hwang, G.W. Cline, K. Gerow, D.L. Rothman, and G.I. Shulman. 1996. The roles of insulin and glucagon in the regulation of hepatic glycogen synthesis and turnover in humans J. Clin. Invest. 97:642-648.
31. Magnusson, I., D.L. Rothman, B. Jucker, G.W. Cline, R.G. Shulman, and G.I. Shulman. 1994. Liver glycogen turnover in fed and fasted humans. Am. J. Physiol. 266:E796-E803.
32. Moore, M.C., A.D. Cherrington, G. Cline, M.J. Pagliassotti, E.M. Jones, D.W. Neal, C. Badet, and G.I. Shulman. 1991. Sources of carbon for hepatic glycogen synthesis in the conscious dog. J. Clin. Invest. 88:578-587.
33. DeFronzo, R.A., R.C. Bonadonna, and E. Ferrannini. 1992. Pathogenesis of NIDDM: a balanced overview. Diabetes Care. 15:318-368.
34. Clément, K., M.E. Pueyo, M. Vaxillaire, B. Rakotoambinina, F. Thuillier, P. Passa, P. Froguel, J.-J. Robert, and G. Velho. 1996. Assessment of insulin sensitivity in glucokinase-deficient subjects. Diabetologia. 39:82-90.