SLC30A8 mutations in type 2 diabetes

Diabetologia

Volumn 58, Issue 1, 2015, Pages 31-36

  Rutter, Guy A ^a   Chimienti, Fabrice ^b  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b ASTRAZENECA R AND D   (Sweden)

Author keywords

Diabetes genetics; GWAS; Insulin secretion; Review; SLC30A8; Zinc transport; ZnT8

Indexed keywords

UNCLASSIFIED DRUG; ZINC TRANSPORTER; ZINC TRANSPORTER 8; CATION TRANSPORT PROTEIN; SLC30A8 PROTEIN, HUMAN;

ALLELE; CELL HYPOXIA; CELL STRESS; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PROTEIN FUNCTION; REVIEW; SLC30A8 GENE; SUBSTITUTION REACTION; ANIMAL; DIABETES MELLITUS, TYPE 2; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; KNOCKOUT MOUSE; MOUSE; MUTATION;

ANIMALS; CATION TRANSPORT PROTEINS; DIABETES MELLITUS, TYPE 2; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; POLYMORPHISM, GENETIC;

EID: 84916641587     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-014-3405-7     Document Type: Review

References (48)

1. Maret W (2013) Zinc biochemistry: from a single zinc enzyme to a key element of life. Adv Nutr 4:82–91
2. Dodson G, Steiner D (1998) The role of assembly in insulin’s biosynthesis. Curr Opin Struct Biol 8:189–194
3. Emdin SO, Dodson GG, Cutfield JM, Cutfield SM (1980) Role of zinc in insulin biosynthesis. Some possible zinc-insulin interactions in the pancreatic B cell. Diabetologia 19:174–182
4. Hutton JC, Penn EJ, Peshavaria M (1983) Low-molecular-weight constituents of isolated insulin-secretory vesicles. Bivalent cations, adenine nucleotides and inorganic phosphate. Biochem J 210:297–305
5. Vinkenborg JL, Nicolson TJ, Bellomo EA, Koay MS, Rutter GA, Merkx M (2009) Genetically encoded FRET sensors to monitor intracellular Zn2+ homeostasis. Nat Methods 6:737–740
6. Carroll RJ, Hammer RE, Chan SJ, Swift HH, Rubenstein AH, Steiner DF (1988) A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway. Proc Natl Acad Sci U S A 85:8943–8947
7. Chausmer AB (1998) Zinc, insulin and diabetes. J Am Coll Nutr 17:109–115
8. Sladek R, Rocheleau G, Rung J et al (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445:881–885
9. Chimienti F, Devergnas S, Favier A, Seve M (2004) Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules. Diabetes 53:2330–2337
10. Lichten LA, Cousins RJ (2009) Mammalian zinc transporters: nutritional and physiologic regulation. Annu Rev Nutr 29:153–176
11. 2+ in pancreatic beta cells. Diabetologia 57:1635–1644
12. Boesgaard TW, Zilinskaite J, Vanttinen M et al (2008) The common SLC30A8 Arg325Trp variant is associated with reduced first-phase insulin release in 846 non-diabetic offspring of type 2 diabetes patients-the EUGENE2 study. Diabetologia 51:816–820
13. Cauchi S, Del GS, Choquet H et al (2010) Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets. Mol Genet Metab 100:77–82
14. Kirchhoff K, Machicao F, Haupt A et al (2008) Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion. Diabetologia 51:597–601
15. Nicolson TJ, Bellomo EA, Wijesekara N et al (2009) Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. Diabetes 58:2070–2083
16. Lemaire K, Ravier MA, Schraenen A et al (2009) Insulin crystallization depends on zinc transporter ZnT8 expression, but is not required for normal glucose homeostasis in mice. Proc Natl Acad Sci U S A 106:14872–14877
17. Tamaki M, Fujitani Y, Hara A et al (2013) The diabetes-susceptible gene SLC30A8/ZnT8 regulates hepatic insulin clearance. J Clin Invest 123:4513–4524
18. Wenzlau JM, Juhl K, Yu L et al (2007) The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci U S A 104:17040–17045
19. Wenzlau JM, Moua O, Sarkar SA et al (2008) SlC30A8 is a major target of humoral autoimmunity in type 1 diabetes and a predictive marker in prediabetes. Ann N Y Acad Sci 1150:256–259
20. Weijers RN (2010) Three-dimensional structure of beta-cell-specific zinc transporter, ZnT-8, predicted from the type 2 diabetes-associated gene variant SLC30A8 R325W. Diabetol Metab Syndr 2:33
21. Chao Y, Fu D (2004) Thermodynamic studies of the mechanism of metal binding to the Escherichia coli zinc transporter YiiP. J Biol Chem 279:17173–17180
22. Kim I, Kang ES, Yim YS et al (2010) A low-risk ZnT-8 allele (W325) for post-transplantation diabetes mellitus is protective against cyclosporin A-induced impairment of insulin secretion. Pharmacogenomics J 11:191–198
23. Davidson HW, Wenzlau JM, O’Brien RM (2014) Zinc transporter 8 (ZnT8) and beta cell function. Trends Endocrinol Metab 25:415–424
24. Valentine RA, Jackson KA, Christie GR, Mathers JC, Taylor PM, Ford D (2007) ZnT5 variant B is a bidirectional zinc transporter and mediates zinc uptake in human intestinal Caco-2 cells. J Biol Chem 282:14389–14393
25. Hoch E, Lin W, Chai J, Hershfinkel M, Fu D, Sekler I (2012) Histidine pairing at the metal transport site of mammalian ZnT transporters controls Zn2+ over Cd2+ selectivity. Proc Natl Acad Sci U S A 109:7202–7207
26. Pound LD, Sarkar SA, Benninger RK et al (2009) Deletion of the mouse Slc30a8 gene encoding zinc transporter-8 results in impaired insulin secretion. Biochem J 421:371–376
27. Pound LD, Sarkar SA, Ustione A et al (2012) The physiological effects of deleting the mouse slc30a8 gene encoding zinc transporter-8 are influenced by gender and genetic background. PLoS One 7:e40972
28. Wijesekara N, Dai FF, Hardy AB et al (2010) Beta cell specific ZnT8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion. Diabetologia 53:1656–1668
29. Hardy AB, Wijesekara N, Genkin I et al (2012) Effects of high-fat diet feeding on Znt8-null mice: differences between beta-cell and global knockout of Znt8. Am J Physiol Endocrinol Metab 302:E1084–E1096
30. Rutter GA (2010) Think zinc: new roles for zinc in the control of insulin secretion. Islets 2:1–2
31. Quarterman J, Mills CF, Humphries WR (1966) The reduced secretion of, and sensitivity to insulin in zinc-deficient rats. Biochem Biophys Res Commun 25:354–358
32. Coulston L, Dandona P (1980) Insulin-like effect of zinc on adipocytes. Diabetes 29:665–667
33. Haase H, Maret W (2005) Protein tyrosine phosphatases as targets of the combined insulinomimetic effects of zinc and oxidants. Biometals 18:333–338
34. Flannick J, Thorleifsson G, Beer NL et al (2014) Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet 46:357–363
35. Kang ES, Kim MS, Kim YS et al (2008) A polymorphism in the zinc transporter gene SLC30A8 confers resistance against posttransplantation diabetes mellitus in renal allograft recipients. Diabetes 57:1043–1047
36. Kim BJ, Kim YH, Kim S et al (2000) Zinc as a paracrine effector in pancreatic islet cell death. Diabetes 49:367–372
37. Chimienti F, Jourdan E, Favier A, Seve M (2001) Zinc resistance impairs sensitivity to oxidative stress in HeLa cells: protection through metallothioneins expression. Free Radic Biol Med 31:1179–1190
38. Zeggini E, Weedon MN, Lindgren CM et al (2007) Replication of genome-wide association signals in U.K. samples reveals risk loci for type 2 diabetes. Science 316:1336–1341
39. Scott LJ, Mohlke KL, Bonnycastle LL et al (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341–1345
40. da Silva Xavier G, Bellomo EA, McGinty JA, French PM, Rutter GA (2013) Animal models of GWAS-identified type 2 diabetes genes. J Diabetes Res 2013:906590
41. Kahn SE, Zraika S, Utzschneider KM, Hull RL (2009) The beta cell lesion in type 2 diabetes: there has to be a primary functional abnormality. Diabetologia 52:1003–1012
42. van Hoek M, Dehghan A, Witteman JC et al (2008) Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes 57:3122–3128
43. Lango H, Palmer CN, Morris AD et al (2008) Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes 57:3129–3135
44. Nature Medicine (2013) Of men, not mice. Nat Med 19:379
45. da Silva Xavier G, Loder MK, McDonald A et al (2009) TCF7L2 regulates late events in insulin secretion from pancreatic islet beta-cells. Diabetes 58:894–905
46. da Silva Xavier G, Mondragon A, Sun G et al (2012) Abnormal glucose tolerance and insulin secretion in pancreas-specific Tcf7l2 null mice. Diabetologia 55:2667–2676
47. White CR, Seymour RS (2003) Mammalian basal metabolic rate is proportional to body mass2/3. Proc Natl Acad Sci U S A 100:4046–4049
48. Tamaki M, Fujitani Y, Uchida T, Hirose T, Kawamori R, Watada H (2009) Downregulation of ZnT8 expression in pancreatic beta-cells of diabetic mice. Islets 1:124–128