Clinical implications of the glucokinase impaired function - GCK MODY today
Jazyk angličtina Země Česko Médium print-electronic
Typ dokumentu časopisecké články, přehledy
PubMed
33129248
PubMed Central
PMC8549873
DOI
10.33549/physiolres.934487
PII: 934487
Knihovny.cz E-zdroje
- MeSH
- diabetes mellitus 2. typu enzymologie genetika patologie MeSH
- glukokinasa genetika metabolismus MeSH
- heterozygot MeSH
- hyperglykemie enzymologie genetika patologie MeSH
- lidé MeSH
- mutace * MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- glukokinasa MeSH
Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). GCK-MODY is characterized by fasting hyperglycemia without apparent worsening with aging and low risk for chronic vascular complications. Despite the mild clinical course, GCK-MODY could be misdiagnosed as type 1 or type 2 diabetes. In the diagnostic process, the clinical suspicion is often based on the clinical diagnostic criteria for GCK-MODY and should be confirmed by DNA analysis. However, there are several issues in the clinical and also in genetic part that could complicate the diagnostic process. Most of the people with GCK-MODY do not require any pharmacotherapy. The exception are pregnant women with a fetus which did not inherit GCK mutation from the mother. Such a child has accelerated growth, and has increased risk for diabetic foetopathy. In this situation the mother should be treated with substitutional doses of insulin. Therefore, distinguishing GCK-MODY from gestational diabetes in pregnancy is very important. For this purpose, special clinical diagnostic criteria for clinical identification of GCK-MODY in pregnancy are used. This review updates information on GCK-MODY and discusses several currently not solved problems in the clinical diagnostic process, genetics, and treatment of this type of monogenic diabetes.
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AGIUS L, PEAK M. Intracellular binding of glucokinase in hepatocytes and translocation by glucose, fructose and insulin. Biochem J. 1993;296(Pt 3):785–796. doi: 10.1042/bj2960785. PubMed DOI PMC
AGIUS L, PEAK M. Binding and translocation of glucokinase in hepatocytes. Biochem Soc Trans. 1997;25:145–150. doi: 10.1042/bst0250145. PubMed DOI
ALVELOS MI, GONCALVES CI, COUTINHO E, ALMEIDA JT, BASTOS M, SAMPAIO ML, MELO M, MARTINS S, DINIS I, MIRANTE A, GOMES L, SARAIVA J, PEREIRA BD, GAMA-DE-SOUSA S, MORENO C, GUELHO D, MARTINS D, BAPTISTA C, BARROS L, VENTURA M, GOMES MM, LEMOS MC. Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations. J Clin Med. 2020:9. doi: 10.3390/jcm9010288. PubMed DOI PMC
ANDERLOVA K, CINKAJZLOVA A, SIMJAK P, KLOUCKOVA J, KRATOCHVILOVA H, LACINOVA Z, KAVALKOVA P, KREJCI H, MRAZ M, PARIZEK A, HALUZIK M, KRSEK M. Insulin-like growth factor axis in pregnancy and gestational diabetes mellitus. Physiol Res. 2019;68:807–816. doi: 10.33549/physiolres.934093. PubMed DOI
ASHCROFT FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest. 2005;115:2047–2058. doi: 10.1172/JCI25495. PubMed DOI PMC
BASCO D, ZHANG Q, SALEHI A, TARASOV A, DOLCI W, HERRERA P, SPILIOTIS I, BERNEY X, TARUSSIO D, RORSMAN P, THORENS B. alpha-cell glucokinase suppresses glucose-regulated glucagon secretion. Nat Commun. 2018;9:546. doi: 10.1038/s41467-018-03034-0. PubMed DOI PMC
BESSER RE, LUDVIGSSON J, JONES AG, McDONALD TJ, SHIELDS BM, KNIGHT BA, HATTERSLEY AT. Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes. Diabetes Care. 2011;34:607–609. doi: 10.2337/dc10-2114. PubMed DOI PMC
BIRKEBAEK NH, SORENSEN JS, VIKRE-JORGENSEN J, JENSEN PK, PEDERSEN O, HANSEN T. A de novo whole GCK gene deletion not detected by gene sequencing, in a boy with phenotypic GCK insufficiency. Case Rep Genet. 2011;2011:768610. doi: 10.1155/2011/768610. PubMed DOI PMC
BROWN KS, KALINOWSKI SS, MEGILL JR, DURHAM SK, MOOKHTIAR KA. Glucokinase regulatory protein may interact with glucokinase in the hepatocyte nucleus. Diabetes. 1997;46:179–186. doi: 10.2337/diabetes.46.2.179. PubMed DOI
BUCHANAN TA, KJOS SL, MONTORO MN, WU PY, MADRILEJO NG, GONZALEZ M, NUNEZ V, PANTOJA PM, XIANG A. Use of fetal ultrasound to select metabolic therapy for pregnancies complicated by mild gestational diabetes. Diabetes Care. 1994;17:275–283. doi: 10.2337/diacare.17.4.275. PubMed DOI
CAPPELLI A, SILVESTRI S, TUMINI S, CARINCI S, CIPRIANO P, MASSI L, STAFFOLANI P, PIANESE L. A new de novo mutation in the GCK gene causing MODY2. Diabetes Res Clin Pract. 2011;93:e41–43. doi: 10.1016/j.diabres.2011.04.006. PubMed DOI
CLEMENT K, PUEYO ME, VAXILLAIRE M, RAKOTOAMBININA B, THUILLIER F, PASSA P, FROGUEL P, ROBERT JJ, VELHO G. Assessment of insulin sensitivity in glucokinase-deficient subjects. Diabetologia. 1996;39:82–90. PubMed
DAVIS EA, CUESTA-MUNOZ A, RAOUL M, BUETTGER C, SWEET I, MOATES M, MAGNUSON MA, MATSCHINSKY FM. Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis. Diabetologia. 1999;42:1175–1186. doi: 10.1007/s001250051289. PubMed DOI
De BACKER I, HUSSAIN SS, BLOOM SR, GARDINER JV. Insights into the role of neuronal glucokinase. Am J Physiol Endocrinol Metab. 2016;311:E42–55. doi: 10.1152/ajpendo.00034.2016. PubMed DOI PMC
De FRANCO E, CASWELL R, HOUGHTON JA, IOTOVA V, HATTERSLEY AT, ELLARD S. Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med. 2017;34:582–585. doi: 10.1111/dme.13180. PubMed DOI PMC
ELLARD S, BELLANNE-CHANTELOT C, HATTERSLEY AT EUROPEAN MOLECULAR GENETICS QUALITY NETWORK Mg. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008;51:546–553. doi: 10.1007/s00125-008-0942-y. PubMed DOI PMC
ELLARD S, THOMAS K, EDGHILL EL, OWENS M, AMBYE L, CROPPER J, LITTLE J, STRACHAN M, STRIDE A, ERSOY B, EIBERG H, PEDERSEN O, SHEPHERD MH, HANSEN T, HARRIES LW, HATTERSLEY AT. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. 2007;50:2313–2317. doi: 10.1007/s00125-007-0798-6. PubMed DOI
FEIGERLOVA E, PRUHOVA S, DITTERTOVA L, LEBL J, PINTEROVA D, KOLOSTOVA K, CERNA M, PEDERSEN O, HANSEN T. Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. Eur J Pediatr. 2006;165:446–452. doi: 10.1007/s00431-006-0106-3. PubMed DOI
FLANAGAN SE, EDGHILL EL, GLOYN AL, ELLARD S, HATTERSLEY AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006;49:1190–1197. doi: 10.1007/s00125-006-0246-z. PubMed DOI
GALCHEVA S, DEMIRBILEK H, AL-KHAWAGA S, HUSSAIN K. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism. Front Endocrinol (Lausanne) 2019;10:111. doi: 10.3389/fendo.2019.00111. PubMed DOI PMC
GASPERIKOVA D, TRIBBLE ND, STANIK J, HUCKOVA M, MISOVICOVA N, Van de BUNT M, VALENTINOVA L, BARROW BA, BARAK L, DOBRANSKY R, BERECZKOVA E, MICHALEK J, WICKS K, COLCLOUGH K, KNIGHT JC, ELLARD S, KLIMES I, GLOYN AL. Identification of a novel beta-cell glucokinase (GCK) promoter mutation (−71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans. Diabetes. 2009;58:1929–1935. doi: 10.2337/db09-0070. PubMed DOI PMC
GILMARTIN AB, URAL SH, REPKE JT. Gestational diabetes mellitus. Rev Obstet Gynecol. 2008;1:129–134. PubMed PMC
GLOYN AL, ELLARD S, SHIELD JP, TEMPLE IK, MACKAY DJ, POLAK M, BARRETT T, HATTERSLEY AT. Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia. 2002;45:290. doi: 10.1007/s00125-001-0746-9. PubMed DOI
GLOYN AL, NOORDAM K, WILLEMSEN MA, ELLARD S, LAM WW, CAMPBELL IW, MIDGLEY P, SHIOTA C, BUETTGER C, MAGNUSON MA, MATSCHINSKY FM, HATTERSLEY AT. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes. 2003;52:2433–2440. doi: 10.2337/diabetes.52.9.2433. PubMed DOI
GLOYN AL, Van de BUNT M, STRATTON IM, LONIE L, TUCKER L, ELLARD S, HOLMAN RR. Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia. 2009;52:172–174. doi: 10.1007/s00125-008-1188-4. PubMed DOI
GRUPE A, HULTGREN B, RYAN A, MA YH, BAUER M, STEWART TA. Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell. 1995;83:69–78. doi: 10.1016/0092-8674(95)90235-X. PubMed DOI
GUENAT E, SEEMATTER G, PHILIPPE J, TEMLER E, JEQUIER E, TAPPY L. Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations. Diabetes Metab. 2000;26:377–384. PubMed
HAGER J, BLANCHE H, SUN F, VAXILLAIRE NV, POLLER W, COHEN D, CZERNICHOW P, VELHO G, ROBERT JJ, COHEN N, et al. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique. Diabetes. 1994;43:730–733. doi: 10.2337/diabetes.43.5.730. PubMed DOI
HALILOGLU B, HYSENAJ G, ATAY Z, GURAN T, ABALI S, TURAN S, BEREKET A, ELLARD S. GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. Clin Endocrinol (Oxf) 2016;85:393–399. doi: 10.1111/cen.13121. PubMed DOI PMC
HATTERSLEY AT, BEARDS F, BALLANTYNE E, APPLETON M, HARVEY R, ELLARD S. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet. 1998;19:268–270. doi: 10.1038/953. PubMed DOI
HATTERSLEY AT, GREELEY SAW, POLAK M, RUBIO-CABEZAS O, NJOLSTAD PR, MLYNARSKI W, CASTANO L, CARLSSON A, RAILE K, CHI DV, ELLARD S, CRAIG ME. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 19 Suppl. 2018;27:47–63. doi: 10.1111/pedi.12772. PubMed DOI
HEREDIA VV, CARLSON TJ, GARCIA E, SUN S. Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations. J Biol Chem. 2006;281:40201–40207. doi: 10.1074/jbc.M607987200. PubMed DOI
CHAKERA AJ, SPYER G, VINCENT N, ELLARD S, HATTERSLEY AT, DUNNE FP. The 0.1 % of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the atlantic diabetes in pregnancy cohort. Diabetes Care. 2014;37:1230–1236. doi: 10.2337/dc13-2248. PubMed DOI
CHAKERA AJ, STEELE AM, GLOYN AL, SHEPHERD MH, SHIELDS B, ELLARD S, HATTERSLEY AT. Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Diabetes Care. 2015;38:1383–1392. doi: 10.2337/dc14-2769. PubMed DOI
CHRISTESEN HB, TRIBBLE ND, MOLVEN A, SIDDIQUI J, SANDAL T, BRUSGAARD K, ELLARD S, NJOLSTAD PR, ALM J, BROCK JACOBSEN B, HUSSAIN K, GLOYN AL. Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol. 2008;159:27–34. doi: 10.1530/EJE-08-0203. PubMed DOI
INTERNATIONAL ASSOCIATION OF D, PREGNANCY STUDY GROUPS CONSENSUS P. METZGER BE, GABBE SG, PERSSON B, BUCHANAN TA, CATALANO PA, DAMM P, DYER AR, LEIVA A, HOD M, KITZMILER JL, LOWE LP, MCINTYRE HD, OATS JJ, OMORI Y, SCHMIDT MI. International association of diabetes and pregnancy study groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy. Diabetes Care. 2010;33:676–682. doi: 10.2337/dc10-0719. PubMed DOI PMC
IYNEDJIAN PB. Mammalian glucokinase and its gene. Biochem J. 1993;293(Pt 1):1–13. doi: 10.1042/bj2930001. PubMed DOI PMC
IYNEDJIAN PB. Molecular physiology of mammalian glucokinase. Cell Mol Life Sci. 2009;66:27–42. doi: 10.1007/s00018-008-8322-9. PubMed DOI PMC
KAMATA K, MITSUYA M, NISHIMURA T, EIKI J, NAGATA Y. Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase. Structure. 2004;12:429–438. doi: 10.1016/j.str.2004.02.005. PubMed DOI
KJOS SL, SCHAEFER-GRAF U, SARDESI S, PETERS RK, BULEY A, XIANG AH, BRYNE JD, SUTHERLAND C, MONTORO MN, BUCHANAN TA. A randomized controlled trial using glycemic plus fetal ultrasound parameters versus glycemic parameters to determine insulin therapy in gestational diabetes with fasting hyperglycemia. Diabetes Care. 2001;24:1904–1910. doi: 10.2337/diacare.24.11.1904. PubMed DOI
LORINI R, KLERSY C, D’ANNUNZIO G, MASSA O, MINUTO N, IAFUSCO D, BELLANNE-CHANTELOT C, FRONGIA AP, TONI S, MESCHI F, CERUTTI F, BARBETTI F ITALIAN SOCIETY OF PEDIATRIC E, DIABETOLOGY STUDY G. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care. 2009;32:1864–1866. doi: 10.2337/dc08-2018. PubMed DOI PMC
MA Y, RATNASABAPATHY R, IZZI-ENGBEAYA C, NGUYEN-TU MS, RICHARDSON E, HUSSAIN S, De BACKER I, HOLTON C, NORTON M, CARRAT G, SCHWAPPACH B, RUTTER GA, DHILLO WS, GARDINER J. Hypothalamic arcuate nucleus glucokinase regulates insulin secretion and glucose homeostasis. Diabetes Obes Metab. 2018;20:2246–2254. doi: 10.1111/dom.13359. PubMed DOI PMC
MASSA O, MESCHI F, CUESTA-MUNOZ A, CAUMO A, CERUTTI F, TONI S, CHERUBINI V, GUAZZAROTTI L, SULLI N, MATSCHINSKY FM, LORINI R, IAFUSCO D, BARBETTI F DIABETES STUDY GROUP OF THE ITALIAN SOCIETY OF PAEDIATIC E, DIABETES. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetologia. 2001;44:898–905. doi: 10.1007/s001250100530. PubMed DOI
MATSCHINSKY FM. Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm. Diabetes. 1996;45:223–241. doi: 10.2337/diabetes.45.2.223. PubMed DOI
MATSCHINSKY FM. Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes. 2002;51(Suppl 3):S394–404. doi: 10.2337/diabetes.51.2007.S394. PubMed DOI
MATSCHINSKY FM, MAGNUSON MA, ZELENT D, JETTON TL, DOLIBA N, HAN Y, TAUB R, GRIMSBY J. The network of glucokinase-expressing cells in glucose homeostasis and the potential of glucokinase activators for diabetes therapy. Diabetes. 2006;55:1–12. doi: 10.2337/diabetes.55.01.06.db05-0926. PubMed DOI
MATSCHINSKY FM, WILSON DF. The central role of glucokinase in glucose homeostasis: a perspective 50 years after demonstrating the presence of the enzyme in islets of langerhans. Front Physiol. 2019;10:148. doi: 10.3389/fphys.2019.00148. PubMed DOI PMC
McDONALD TJ, COLCLOUGH K, BROWN R, SHIELDS B, SHEPHERD M, BINGLEY P, WILLIAMS A, HATTERSLEY AT, ELLARD S. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med. 2011a;28:1028–1033. doi: 10.1111/j.1464-5491.2011.03287.x. PubMed DOI
McDONALD TJ, SHIELDS BM, LAWRY J, OWEN KR, GLOYN AL, ELLARD S, HATTERSLEY AT. High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care. 2011b;34:1860–1862. doi: 10.2337/dc11-0323. PubMed DOI PMC
MEISSNER T, MARQUARD J, COBO-VUILLEUMIER N, MARINGA M, RODRIGUEZ-BADA P, GARCIA-GIMENO MA, BAIXERAS E, WEBER J, OLEK K, SANZ P, MAYATEPEK E, CUESTA-MUNOZ AL. Diagnostic difficulties in glucokinase hyperinsulinism. Horm Metab Res. 2009;41:320–326. doi: 10.1055/s-0028-1102922. PubMed DOI
MURPHY R, TURA A, CLARK PM, HOLST JJ, MARI A, HATTERSLEY AT. Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor. Diabetologia. 2009;52:154–159. doi: 10.1007/s00125-008-1183-9. PubMed DOI
NICULESCU L, VEIGA-DA-CUNHA M, Van SCHAFTINGEN E. Investigation on the mechanism by which fructose, hexitols and other compounds regulate the translocation of glucokinase in rat hepatocytes. Biochem J. 1997;321(Pt 1):239–246. doi: 10.1042/bj3210239. PubMed DOI PMC
NJOLSTAD PR, MOLVEN A. To test, or not to test: time for a MODY calculator? Diabetologia. 2012;55:1231–1234. doi: 10.1007/s00125-012-2514-4. PubMed DOI
OSBAK KK, COLCLOUGH K, SAINT-MARTIN C, BEER NL, BELLANNE-CHANTELOT C, ELLARD S, GLOYN AL. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009;30:1512–1526. doi: 10.1002/humu.21110. PubMed DOI
OSUNDIJI MA, LAM DD, SHAW J, YUEH CY, MARKKULA SP, HURST P, COLLIVA C, RODA A, HEISLER LK, EVANS ML. Brain glucose sensors play a significant role in the regulation of pancreatic glucose-stimulated insulin secretion. Diabetes. 2012;61:321–328. doi: 10.2337/db11-1050. PubMed DOI PMC
OWEN KR, THANABALASINGHAM G, JAMES TJ, KARPE F, FARMER AJ, McCARTHY MI, GLOYN AL. Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care. 2010;33:1919–1924. doi: 10.2337/dc10-0288. PubMed DOI PMC
PAL A, FARMER AJ, DUDLEY C, SELWOOD MP, BARROW BA, KLYNE R, GREW JP, McCARTHY MI, GLOYN AL, OWEN KR. Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care. 2010;33:252–257. doi: 10.2337/dc09-1246. PubMed DOI PMC
ROSARIO W, SINGH I, WAUTLET A, PATTERSON C, FLAK J, BECKER TC, ALI A, TAMARINA N, PHILIPSON LH, ENQUIST LW, MYERS MG, Jr, RHODES CJ. The brain-to-pancreatic islet neuronal map reveals differential glucose regulation from distinct hypothalamic regions. Diabetes. 2016;65:2711–2723. doi: 10.2337/db15-0629. PubMed DOI PMC
RUBIO-CABEZAS O, DIAZ GONZALEZ F, ARAGONES A, ARGENTE J, CAMPOS-BARROS A. Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene. Pediatr Diabetes. 2008;9:245–249. doi: 10.1111/j.1399-5448.2007.00361.x. PubMed DOI
RUBIO-CABEZAS O, HATTERSLEY AT, NJOLSTAD PR, MLYNARSKI W, ELLARD S, WHITE N, CHI DV, CRAIG ME INTERNATIONAL SOCIETY FOR P, ADOLESCENT D. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2014;15(Suppl 20):47–64. doi: 10.1111/pedi.12192. PubMed DOI
RUBIO-CABEZAS O, KLUPA T, MALECKI MT, CONSORTIUM C. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011;41:323–333. doi: 10.1111/j.1365-2362.2010.02409.x. PubMed DOI
RUDLAND VL, HINCHCLIFFE M, PINNER J, COLE S, MERCORELLA B, MOLYNEAUX L, CONSTANTINO M, YUE DK, ROSS GP, WONG J. Identifying glucokinase monogenic diabetes in a multiethnic gestational diabetes mellitus cohort: new pregnancy screening criteria and utility of HbA1c. Diabetes Care. 2016;39:50–52. doi: 10.2337/dc15-1001. PubMed DOI
SAGEN JV, BJORKHAUG L, MOLNES J, RAEDER H, GREVLE L, SOVIK O, MOLVEN A, NJOLSTAD PR. Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY registry. Pediatr Diabetes. 2008;9:442–449. doi: 10.1111/j.1399-5448.2008.00399.x. PubMed DOI
SAYED S, LANGDON DR, ODILI S, CHEN P, BUETTGER C, SCHIFFMAN AB, SUCHI M, TAUB R, GRIMSBY J, MATSCHINSKY FM, STANLEY CA. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes. 2009;58:1419–1427. doi: 10.2337/db08-1792. PubMed DOI PMC
SHIELDS BM, HICKS S, SHEPHERD MH, COLCLOUGH K, HATTERSLEY AT, ELLARD S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia. 2010;53:2504–2508. doi: 10.1007/s00125-010-1799-4. PubMed DOI
SHIELDS BM, McDONALD TJ, ELLARD S, CAMPBELL MJ, HYDE C, HATTERSLEY AT. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia. 2012;55:1265–1272. doi: 10.1007/s00125-011-2418-8. PubMed DOI PMC
SHIOTA C, COFFEY J, GRIMSBY J, GRIPPO JF, MAGNUSON MA. Nuclear import of hepatic glucokinase depends upon glucokinase regulatory protein, whereas export is due to a nuclear export signal sequence in glucokinase. J Biol Chem. 1999;274:37125–37130. doi: 10.1074/jbc.274.52.37125. PubMed DOI
SINGH R, PEARSON ER, CLARK PM, HATTERSLEY AT. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia. 2007;50:620–624. doi: 10.1007/s00125-006-0541-8. PubMed DOI
SPYER G, HATTERSLEY AT, SYKES JE, STURLEY RH, MACLEOD KM. Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol. 2001;185:240–241. doi: 10.1067/mob.2001.113127. PubMed DOI
SPYER G, MACLEOD KM, SHEPHERD M, ELLARD S, HATTERSLEY AT. Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med. 2009;26:14–18. doi: 10.1111/j.1464-5491.2008.02622.x. PubMed DOI
STANIK J, DUSATKOVA P, CINEK O, VALENTINOVA L, HUCKOVA M, SKOPKOVA M, DUSATKOVA L, STANIKOVA D, PURA M, KLIMES I, LEBL J, GASPERIKOVA D, PRUHOVA S. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia. 2014;57:480–484. doi: 10.1007/s00125-013-3119-2. PubMed DOI
STANIK J, GASPERIKOVA D, PASKOVA M, BARAK L, JAVORKOVA J, JANCOVA E, CILJAKOVA M, HLAVA P, MICHALEK J, FLANAGAN SE, PEARSON E, HATTERSLEY AT, ELLARD S, KLIMES I. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab. 2007;92:1276–1282. doi: 10.1210/jc.2006-2490. PubMed DOI PMC
STANIK J, KUSEKOVA M, HUCKOVA M, VALENTINOVA L, MASINDOVA I, STANIKOVA D, FERENCZOVA J, GASPERIKOVA D, KLIMES I. Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report. Endocr Regul. 2012;46:99–105. doi: 10.4149/endo_2012_02_99. PubMed DOI
STANIK J, SKOPKOVA M, BRENNEROVA K, DANIS D, ROSOLANKOVA M, SALINGOVA A, BZDUCH V, KLIMES I, GASPERIKOVA D. Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. Diabetes Res Clin Pract. 2017;126:144–150. doi: 10.1016/j.diabres.2017.02.014. PubMed DOI
STANIK J, SKOPKOVA M, STANIKOVA D, BRENNEROVA K, BARAK L, TICHA L, HORNOVA J, KLIMES I, GASPERIKOVA D. Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. Physiol Res. 2018;67:331–337. doi: 10.33549/physiolres.933689. PubMed DOI
STEELE AM, SHIELDS BM, WENSLEY KJ, COLCLOUGH K, ELLARD S, HATTERSLEY AT. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014;311:279–286. doi: 10.1001/jama.2013.283980. PubMed DOI
STEELE AM, WENSLEY KJ, ELLARD S, MURPHY R, SHEPHERD M, COLCLOUGH K, HATTERSLEY AT, SHIELDS BM. Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One. 2013;8:e65326. doi: 10.1371/journal.pone.0065326. PubMed DOI PMC
STERNISHA SM, MILLER BG. Molecular and cellular regulation of human glucokinase. Arch Biochem Biophys. 2019;663:199–213. doi: 10.1016/j.abb.2019.01.011. PubMed DOI PMC
STRIDE A, SHIELDS B, GILL-CAREY O, CHAKERA AJ, COLCLOUGH K, ELLARD S, HATTERSLEY AT. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. 2014;57:54–56. doi: 10.1007/s00125-013-3075-x. PubMed DOI PMC
STRIDE A, VAXILLAIRE M, TUOMI T, BARBETTI F, NJOLSTAD PR, HANSEN T, COSTA A, CONGET I, PEDERSEN O, SOVIK O, LORINI R, GROOP L, FROGUEL P, HATTERSLEY AT. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002;45:427–435. doi: 10.1007/s00125-001-0770-9. PubMed DOI
TERAUCHI Y, SAKURA H, YASUDA K, IWAMOTO K, TAKAHASHI N, ITO K, KASAI H, SUZUKI H, UEDA O, KAMADA N, ET AL. Pancreatic beta-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose. J Biol Chem. 1995;270:30253–30256. doi: 10.1074/jbc.270.51.30253. PubMed DOI
TOUATI G, POGGI-TRAVERT F, OGIER De BAULNY H, RAHIER J, BRUNELLE F, NIHOUL-FEKETE C, CZERNICHOW P, SAUDUBRAY JM. Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr. 1998;157:628–633. doi: 10.1007/s004310050900. PubMed DOI
TOYODA Y, MIWA I, SATAKE S, ANAI M, OKA Y. Nuclear location of the regulatory protein of glucokinase in rat liver and translocation of the regulator to the cytoplasm in response to high glucose. Biochem Biophys Res Commun. 1995;215:467–473. doi: 10.1006/bbrc.1995.2488. PubMed DOI
TURKKAHRAMAN D, BIRCAN I, TRIBBLE ND, AKCURIN S, ELLARD S, GLOYN AL. Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. J Pediatr. 2008;153:122–126. doi: 10.1016/j.jpeds.2007.12.037. PubMed DOI
VALENTÍNOVÁ L, BEER NL, STANÍK J, TRIBBLE ND, Van de BUNT M, HUČKOVÁ M, BARRETT A, KLIMEŠ I, GAŠPERÍKOVÁ D, GLOYN AL. Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. PLoS ONE. 2012:7. doi: 10.1371/journal.pone.0034541. PubMed DOI PMC
Van SCHAFTINGEN E, DETHEUX M, VEIGA da CUNHA M. Short-term control of glucokinase activity: role of a regulatory protein. FASEB J. 1994;8:414–419. doi: 10.1096/fasebj.8.6.8168691. PubMed DOI
VAXILLAIRE M, SAMSON C, CAVE H, METZ C, FROGUEL P, POLAK M. Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France. Diabetologia. 2002;45:454–455. doi: 10.1007/s00125-001-0741-1. PubMed DOI
VEJRAZKOVA D, LUKASOVA P, VANKOVA M, BRADNOVA O, VACINOVA G, VCELAK J, CIRMANOVA V, ANDELOVA K, KREJCI H, BENDLOVA B. Gestational diabetes - metabolic risks of adult women with respect to birth weight. Physiol Res. 2015;64:S135–145. doi: 10.33549/physiolres.933089. PubMed DOI
VELHO G, BLANCHE H, VAXILLAIRE M, BELLANNE-CHANTELOT C, PARDINI VC, TIMSIT J, PASSA P, DESCHAMPS I, ROBERT JJ, WEBER IT, MAROTTA D, PILKIS SJ, LIPKIND GM, BELL GI, FROGUEL P. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997;40:217–224. doi: 10.1007/s001250050666. PubMed DOI
VELHO G, FROGUEL P, CLEMENT K, PUEYO ME, RAKOTOAMBININA B, ZOUALI H, PASSA P, COHEN D, ROBERT JJ. Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young. Lancet. 1992;340:444–448. doi: 10.1016/0140-6736(92)91768-4. PubMed DOI
VELHO G, HATTERSLEY AT, FROGUEL P. Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia. 2000;43:1060–1063. doi: 10.1007/s001250051490. PubMed DOI
WABITSCH M, LAHR G, Van de BUNT M, MARCHANT C, LINDNER M, von PUTTKAMER J, FENNEBERG A, DEBATIN KM, KLEIN R, ELLARD S, CLARK A, GLOYN AL. Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med. 2007;24:1393–1399. doi: 10.1111/j.1464-5491.2007.02285.x. PubMed DOI