Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

Diabetologia

Volumn 54, Issue 10, 2011, Pages 2575-2583

  Kapoor, R R ^a   Flanagan, S E ^b   James, C T ^a   McKiernan, J ^c   Thomas, A M ^d   Harmer, S C ^d   Shield, J P ^e   Tinker, A ^d   Ellard, S ^b   Hussain, K ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF EXETER   (United Kingdom)

^c Department of Medicine National University of Ireland Cork   (Ireland)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

Author keywords

Diabetes mellitus; Hyperinsulinism; Hypoglycaemia; KATP channels

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; DIAZOXIDE; GLICLAZIDE; INSULIN; METFORMIN; RUBIDIUM 86; SULFONYLUREA RECEPTOR 1;

ABCC8 GENE; ADULT; AGED; ARTICLE; BIRTH WEIGHT; BODY MASS; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE COURSE; DOMINANT INHERITANCE; EMBRYO; ETHNICITY; FEMALE; GENE; GENE DELETION; GENETIC ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HYPERINSULINEMIA; HYPERINSULINEMIC HYPOGLYCEMIA; HYPERINSULINISM; HYPOGLYCEMIA; KCNJ11 GENE; LOSS OF FUNCTION MUTATION; MACROSOMIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORAL GLUCOSE TOLERANCE TEST; PHENOTYPE; PREGNANCY DIABETES MELLITUS; PREVALENCE; PRIORITY JOURNAL; WESTERN BLOTTING;

ADULT; AGED; ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; FEMALE; HUMANS; HYPERINSULINISM; HYPOGLYCEMIA; MALE; MIDDLE AGED; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; YOUNG ADULT;

EID: 80054092390     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-011-2207-4     Document Type: Article

References (21)

1. RR Kapoor C James K Hussain 2009 Advances in the diagnosis and management of hyperinsulinemic hypoglycemia Nat Clin Pract Endocrinol Metab 5 101 112 19165222 10.1038/ncpendmet1046 1:CAS:528:DC%2BD1MXpsVeisg%3D%3D
2. PM Thomas GJ Cote N Wohllk, et al. 1995 Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy Science 268 426 429 7716548 10.1126/science.7716548 1:CAS:528:DyaK2MXltFKktb0%3D
3. P Thomas Y Ye E Lightner 1996 Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy Hum Mol Genet 5 1809 1812 8923010 10.1093/hmg/5.11.1809 1:CAS:528:DyaK28XmslKls78%3D (Pubitemid 26372418)
4. FM Ashcroft 2005 ATP-sensitive potassium channelopathies: focus on insulin secretion J Clin Investigation 115 2047 2058 10.1172/JCI25495 1:CAS:528:DC%2BD2MXntFCmt7s%3D (Pubitemid 41134141)
5. SL Shyng T Ferrigni JB Shepard, et al. 1998 Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy Diabetes 47 1145 1151 9648840 10.2337/diabetes.47.7.1145 1:CAS:528:DyaK1cXkt1amtbc%3D (Pubitemid 28294559)
6. EA Cartier LR Conti CA Vandenberg SL Shyng 2001 Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy Proc Natl Acad Sci USA 98 2882 2887 11226335 10.1073/pnas.051499698 1:CAS:528: DC%2BD3MXhslKmtbk%3D (Pubitemid 32209578)
7. CJ Partridge DJ Beech A Sivaprasadarao 2001 Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism J Biol Chem 276 35947 35952 11457841 10.1074/jbc.M104762200 1:CAS:528: DC%2BD3MXntFahtLo%3D
8. ATP channels J Biol Chem 277 7139 7146 10.1074/jbc.M200363200 (Pubitemid 34967746)
9. H Huopio F Reimann R Ashfield, et al. 2000 Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1 J Clin Invest 106 897 906 11018078 10.1172/JCI9804 1:CAS:528:DC%2BD3cXntVyhsrw%3D
10. PS Thornton C MacMullen A Ganguly, et al. 2003 Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor Diabetes 52 2403 2410 12941782 10.2337/diabetes.52.9.2403 1:CAS:528:DC%2BD3sXntFequ74%3D (Pubitemid 37059513)
11. SE Pinney C MacMullen S Becker, et al. 2008 Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations J Clin Invest 118 2877 2886 18596924 10.1172/JCI35414 1:CAS:528:DC%2BD1cXpsVOktbc%3D
12. M Abdulhadi-Atwan J Bushman S Tornovsky-Babaey, et al. 2008 Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence Diabetes 57 1935 1940 18390792 10.2337/db08-0159 1:CAS:528:DC%2BD1cXosVKltrs%3D
13. SE Flanagan RR Kapoor I Banerjee, et al. 2011 Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia Clin Genet 79 582 587 10.1111/j.1399-0004.2010.01476 20573158 10.1111/j.1399-0004.2010.01476.x 1:CAS:528:DC%2BC3MXnvFKrtb4%3D
14. H Huopio T Otonkoski I Vauhkonen F Reimann FM Ashcroft M Laakso 2003 A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1 Lancet 361 301 307 12559865 10.1016/S0140-6736(03)12325-2 1:CAS:528:DC%2BD3sXmt1antw%3D%3D (Pubitemid 36126191)
15. Office for National Statistics (2003) Ethnic group statistics: a guide for the collection and classification of ethnicity data. www.ons.gov.uk/about- statistics/measuring-equality/equality/ethnic-group-statistics/index.html. Accessed 17 November 2010
16. + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood Diabetes 56 1930 1937 17446535 10.2337/db07-0043 1:CAS:528:DC%2BD2sXnvVWisrk%3D (Pubitemid 47025462)
17. M Muzyamba T Farzaneh P Behe, et al. 2007 Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies Clin Endocrinol (Oxf) 67 115 124 10.1111/j.1365-2265.2007.02847.x 1:CAS:528:DC%2BD2sXovFKitbc%3D (Pubitemid 46955450)
18. SN Magge SL Shyng C MacMullen, et al. 2004 Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor J Clin Endocrinol Metab 89 4450 4456 15356046 10.1210/jc.2004-0441 1:CAS:528:DC%2BD2cXnslWht7g%3D (Pubitemid 39244453)
19. TC Vieira CS Bergamin LC Gurgel RS Moisés 2010 Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation Pediatr Diabetes 11 505 508 20042013 10.1111/j.1399-5448.2009.00626.x 1:CAS:528:DC%2BC3cXhsFyrs77I
20. T Miki K Nagashima F Tashiro, et al. 1998 Defective insulin secretion and enhanced insulin action in KATP channel-deficient mice Proc Natl Acad Sci USA 95 10402 10406 9724715 10.1073/pnas.95.18.10402 1:CAS:528:DyaK1cXlvFWgs7Y%3D (Pubitemid 28413079)
21. LB Signorello DG Schlundt SS Cohen, et al. 2007 Comparing diabetes prevalence between African Americans and Whites of similar socioeconomic status Am J Public Health 97 2260 2267 17971557 10.2105/AJPH.2006.094482 (Pubitemid 351194707)