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The Second Activating Glucokinase Mutation (A456V)
Open accessAbstract
In this study, a second case of hyperinsulinemic hypoglycemia due to activation of glucokinase is reported. The 14-year-old proband had a history of neonatal hypoglycemia, treated with diazoxide. He was admitted with coma and convulsions due to nonketotic hypoglycemia. His BMI was 34 kg/m2, and his fasting blood glucose ranged from 2.1 to 2.7 mmol/l, associated with inappropriately high serum levels of insulin, C-peptide, and proinsulin. An oral glucose tolerance test (OGTT) showed exaggerated responses of these peptides followed by profound hypoglycemia. Treatment with diazoxide and chlorothiazide was effective. His mother never had clinical hypoglycemic symptoms, even though her fasting blood glucose ranged from 2.9 to 3.5 mmol/l. Increases in serum insulin, C-peptide, and proinsulin in response to an OGTT suggested a lower threshold for glucose-stimulated insulin release (GSIR). Screening for mutations in candidate genes revealed a heterozygous glucokinase mutation in exon 10, substituting valine for alanine at codon 456 (A456V) in the proband and his mother. The purified recombinant glutathionyl S-transferase fusion protein of the A456V glucokinase revealed a decreased glucose S0.5 (the concentration of glucose needed to achieve the half-maximal rate of phosphorylation) from 8.04 (wild-type) to 2.53 mmol/l. The mutant’s Hill coefficient was decreased, and its maximal specific activity kcat was increased. Mathematical modeling predicted a markedly lowered GSIR threshold of 1.5 mmol/l. The theoretical and practical implications are manifold and significant.
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Neuroinflammation in Alzheimer's disease
Heneka, M. T., Carson, M. J., Khoury, J. E., Landreth, G. E., Brosseron, F., Feinstein, D. L., Jacobs, A. H., Wyss-Coray, T., Vitorica, J., Ransohoff, R. M., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)70016-5 · Cited by 6,226
Gage, F. H. (2000) · Science · doi:10.1126/science.287.5457.1433 · Cited by 4,786
Neuropathological alterations in Alzheimer disease
Serrano-Pozo, A., Frosch, M. P., Masliah, E., & Hyman, B. T. (2011) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a006189 · Cited by 3,345
New neurons and new memories: how does adult hippocampal neurogenesis affect learning and memory?
Deng, W., Aimone, J. B., & Gage, F. H. (2010) · Nature reviews. Neuroscience · doi:10.1038/nrn2822 · Cited by 2,120
Palop, J. J., Chin, J., Roberson, E. D., Wang, J., Thwin, M. T., Bien-Ly, N., Yoo, J., Ho, K. O., Yu, G.-Q., Kreitzer, A., et al. (2007) · Neuron · doi:10.1016/j.neuron.2007.07.025 · Cited by 1,653
Jankowsky, J. L., Fadale, D. J., Anderson, J., Xu, G. M., Gonzales, V., Jenkins, N. A., Copeland, N. G., Lee, M. K., Younkin, L. H., Wagner, S. L., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh019 · Cited by 1,575
Borchelt, D. R., Ratovitski, T., van Lare, J., Lee, M. K., Gonzales, V., Jenkins, N. A., Copeland, N. G., Price, D. L., & Sisodia, S. S. (1997) · Neuron · doi:10.1016/s0896-6273(00)80974-5 · Cited by 1,023
Increased hippocampal activation in mild cognitive impairment compared to normal aging and AD
Dickerson, B. C., Salat, D. H., Greve, D. N., Chua, E. F., Rand-Giovannetti, E., Rentz, D. M., Bertram, L., Mullin, K., Tanzi, R. E., Blacker, D., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000171450.97464.49 · Cited by 910
Webster, S. J., Bachstetter, A. D., Nelson, P. T., Schmitt, F. A., & Van Eldik, L. J. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00088 · Cited by 755
Characterization of amyloid deposition in the APPswe/PS1dE9 mouse model of Alzheimer disease
Garcia-Alloza, M., Robbins, E. M., Zhang-Nunes, S. X., Purcell, S. M., Betensky, R. A., Raju, S., Prada, C., Greenberg, S. M., Bacskai, B. J., & Frosch, M. P. (2006) · Neurobiology of Disease · doi:10.1016/j.nbd.2006.08.017 · Cited by 744
Cited by
Structural Basis for Allosteric Regulation of the Monomeric Allosteric Enzyme Human Glucokinase
Kamata, K., Mitsuya, M., Nishimura, T., Eiki, J.-I., & Nagata, Y. (2004) · Structure · doi:10.1016/j.str.2004.02.005 · Cited by 502
Osbak, K. K., Colclough, K., Saint-Martin, C., Beer, N. L., Bellanné-Chantelot, C., Ellard, S., & Gloyn, A. L. (2009) · Human Mutation · doi:10.1002/humu.21110 · Cited by 485
Matschinsky, F. M., Magnuson, M. A., Zelent, D., Jetton, T. L., Doliba, N., Han, Y., Taub, R., & Grimsby, J. (2006) · Diabetes · doi:10.2337/diabetes.55.01.06.db05-0926 · Cited by 300
Self-citationHyperinsulinism in Infancy: From Basic Science to Clinical Disease
DUNNE, M. J., COSGROVE, K. E., SHEPHERD, R. M., AYNSLEY-GREEN, A., & LINDLEY, K. J. (2004) · Physiological Reviews · doi:10.1152/physrev.00022.2003 · Cited by 294
Højlund, K., Hansen, T., Lajer, M., Henriksen, J. E., Levin, K., Lindholm, J., Pedersen, O., & Beck-Nielsen, H. (2004) · Diabetes · doi:10.2337/diabetes.53.6.1592 · Cited by 130
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Metadata
- Authors
- Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F. M., & Barbetti, F.
- Venue
- Diabetes
- Publisher
- American Diabetes Association
- Published
- 2002-04-01
- Volume
- 51
- Issue
- 4
- Pages
- 1240-1246
- ISSN
- 0012-1797 (ISSN-L)
- 1939-327X
- OpenAlex
- W2155715785
- Cited by
- 171
- References
- 11
- FWCI
- 12.10
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Christesen, H. B. T., Jacobsen, B. B., Odili, S., Buettger, C., Cuesta-Munoz, A., Hansen, T., Brusgaard, K., Massa, O., Magnuson, M. A., Shiota, C., Matschinsky, F. M., & Barbetti, F. (2002). The Second Activating Glucokinase Mutation (A456V). Diabetes. https://doi.org/10.2337/diabetes.51.4.1240
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