Tired of diabetes genetics? circadian rhythms and diabetes: The MTNR1B story?

Current Diabetes Reports

Volumn 12, Issue 6, 2012, Pages 667-672

  Nagorny, Cecilia ^a   Lyssenko, Valeriya ^a  

^a LUND UNIVERSITY DIABETES CENTRE   (Sweden)

Author keywords

Circadian rhythms; Genetics; Glucose homeostasis; Insulin secretion; MT2; MTNR1B; SNP rs10830963; Type2diabetes

Indexed keywords

GLUCOSE; HEMOGLOBIN A1C; INSULIN; MELATONIN; MELATONIN 1 RECEPTOR; MELATONIN 2 RECEPTOR; MESSENGER RNA; PHENYLALANINE; TRYPTOPHAN;

ANTIOXIDANT ACTIVITY; CIRCADIAN RHYTHM; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HETEROZYGOTE; HUMAN; INSOMNIA; INSULIN LIKE ACTIVITY; INSULIN RELEASE; INTRACELLULAR SIGNALING; MTNR1A GENE; MTNR1B GENE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET BETA CELL; PATHOGENESIS; PHENOTYPE; PREGNANCY DIABETES MELLITUS; REVIEW; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

CIRCADIAN RHYTHM; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC VARIATION; HUMANS; INSULIN; INSULIN-SECRETING CELLS; MALE; MELATONIN; RECEPTOR, MELATONIN, MT1; RECEPTOR, MELATONIN, MT2; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 84870710555     PISSN: 15344827     EISSN: 15390829     Source Type: Journal    
DOI: 10.1007/s11892-012-0327-y     Document Type: Review

References (60)

1. Green CB, Takahashi JS, Bass J. The meter of metabolism. Cell. 2008;134(5):728-42.
2. Lamia KA, Evans RM. Metabolism: tick, tock, a beta-cell clock. Nature. 2010;466(7306):571-2.
3. Stamenkovic JA, Olsson AH, Nagorny CL, Malmgren S, Dekker- Nitert M, Ling C, et al. Regulation of core clock genes in human islets. Metabolism. 2012;61(7):978-85.
4. Hardeland R, Madrid JA, Tan DX, Reiter RJ. Melatonin, the circadian multioscillator system and health: the need for detailed analyses of peripheral melatonin signaling. J Pineal Res. 2012;52 (2):139-66.
5. Shea SA. Obesity and pharmacologic control of the body clock. N Eng J Med. 2012;367(2):175-8.
6. Scheer FA, Hilton MF, Mantzoros CS, Shea SA. Adverse metabolic and cardiovascular consequences of circadian misalignment. Proc Natl Acad Sci U S A. 2009;106(11):4453-8.
7. Simonneaux V, Ribelayga C. Generation of the melatonin endocrine message in mammals: a review of the complex regulation of melatonin synthesis by norepinephrine, peptides, and other pineal transmitters. Pharmacol Rev. 2003;55(2):325-95.
8. Boutin JA, Audinot V, Ferry G, Delagrange P. Molecular tools to study melatonin pathways and actions. Trends Pharmacol Sci. 2005;26(8):412-9.
9. Hardeland R. Antioxidative protection by melatonin: multiplicity of mechanisms from radical detoxification to radical avoidance. Endocrine. 2005;27(2):119-30.
10. Kvetnoy I, Sandvik AK, Waldum HL. The diffuse neuroendocrine system and extrapineal melatonin. J Mol Endocrinol. 1997;18(1):1-3.
11. Peschke E. Melatonin, endocrine pancreas and diabetes. J Pineal Res. 2008;44(1):26-40.
12. Dubocovich ML, Markowska M. Functional MT1 and MT2 melatonin receptors in mammals. Endocrine. 2005;27(2):101-10.
13. Arendt J. Melatonin and the mammalian pineal gland. London: Chapman and Hall; 1994.
14. Pandi-Perumal SR, Srinivasan V, Maestroni GJ, Cardinali DP, Poeggeler B, Hardeland R. Melatonin: nature's most versatile biological signal? FEBS J. 2006;273(13):2813-38.
15. Arendt J, Skene DJ, Middleton B, Lockley SW, Deacon S. Efficacy of melatonin treatment in jet lag, shift work, and blindness. J Biol Rhythms. 1997;12(6):604-17.
16. Arendt J. Does melatonin improve sleep? Efficacy of melatonin. BMJ. 2006;332(7540):550.
17. Zhdanova IV, Wurtman RJ. Efficacy of melatonin as a sleeppromoting agent. J Biol Rhythms. 1997;12(6):644-50.
18. Masana MI, Doolen S, Ersahin C, Al-Ghoul WM, Duckles SP, Dubocovich ML, et al. MT(2) melatonin receptors are present and functional in rat caudal artery. J Pharmacol Exp Ther. 2002;302 (3):1295-302.
19. Weitzman ED, Fukushima D, Nogeire C, Roffwarg H, Gallagher TF, Hellman L. Twenty-four hour pattern of the episodic secretion of cortisol in normal subjects. J Clin Endocrinol Metab. 1971;33 (1):14-22.
20. Brydon L, Petit L, Delagrange P, Strosberg AD, Jockers R. Functional expression of MT2 (Mel1b) melatonin receptors in human PAZ6 adipocytes. Endocrinology. 2001;142(10):4264-71.
21. Ha E, Yim SV, Chung JH, Yoon KS, Kang I, Cho YH, et al. Melatonin stimulates glucose transport via insulin receptor substrate-1/ phosphatidylinositol 3-kinase pathway in C2C12 murine skeletal muscle cells. J Pineal Res. 2006;41(1):67-72.
22. Poon AM, Choy EH, Pang SF. Modulation of blood glucose by melatonin: a direct action on melatonin receptors in mouse hepatocytes. Biol Signals Recept. 2001;10(6):367-79.
23. Peschke E, Frese T, Chankiewitz E, Peschke D, Preiss U, Schneyer U, et al. Diabetic Goto Kakizaki rats as well as type 2 diabetic patients show a decreased diurnal serum melatonin level and an increased pancreatic melatonin-receptor status. J Pineal Res. 2006;40(2):135-43.
24. Bailey CJ, Atkins TW, Matty AJ. Melatonin inhibition of insulin secretion in the rat and mouse. Horm Res. 1974;5(1):21-8.
25. Ramracheya RD, Muller DS, Squires PE, Brereton H, Sugden D, Huang GC, et al. Function and expression of melatonin receptors on human pancreatic islets. J Pineal Res. 2008;44(3):273-9.
26. Chen CQ, Fichna J, Bashashati M, Li YY, Storr M. Distribution, function and physiological role ofmelatonin in the lower gut.World J Gastroenterol: WJG. 2011;17(34):3888-98.
27. Kemp DM, Ubeda M, Habener JF. Identification and functional characterization of melatonin Mel 1a receptors in pancreatic beta cells: potential role in incretin-mediated cell function by sensitization of cAMP signaling. Mol Cell Endocrinol. 2002;191(2):157-66.
28. von Gall C, Stehle JH, Weaver DR. Mammalian melatonin receptors: molecular biology and signal transduction. Cell Tissue Res. 2002;309(1):151-62.
29. Mazzucchelli C, Pannacci M, Nonno R, Lucini V, Fraschini F, Stankov BM. The melatonin receptor in the human brain: cloning experiments and distribution studies. Brain Res Mol Brain Res. 1996;39(1-2):117-26.
30. Al-Ghoul WM, Herman MD, Dubocovich ML. Melatonin receptor subtype expression in human cerebellum. Neuroreport. 1998;9 (18):4063-8.
31. Reppert SM, Weaver DR, Ebisawa T. Cloning and characterization of a mammalian melatonin receptor that mediates reproductive and circadian responses. Neuron. 1994;13(5):1177-85.
32. Pandi-Perumal SR, Trakht I, Srinivasan V, Spence DW, Maestroni GJ, Zisapel N, et al. Physiological effects of melatonin: role of melatonin receptors and signal transduction pathways. Prog Neurobiol. 2008;85(3):335-53.
33. Poirel VJ, Cailotto C, Streicher D, Pevet P, Masson-Pevet M, Gauer F. MT1 melatonin receptor mRNA tissular localization by PCR amplification. Neuro Endocrinol Lett. 2003;24(1-2):33-8.
34. Nagorny CL, Sathanoori R, Voss U, Mulder H, Wierup N. Distribution of melatonin receptors in murine pancreatic islets. J Pineal Res. 2011;50(4):412-7. This study provides evidence for the localization of melatonin receptors in mouse islets on the protein level, not only their expression, but also their cellular localization in the islet. It demonstrates that MT1 is expressed in α-cells while MT2 is located to the β-cells. These findings help to understandthe complex machinery underlying melatonin's role in the regulation of islet function.
35. Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A. 1995;92(19):8734-8.
36. Jockers R, Maurice P, Boutin JA, Delagrange P. Melatonin receptors, heterodimerization, signal transduction and binding sites: what's new? Br J Pharmacol. 2008;154(6):1182-95.
37. Muhlbauer E, Gross E, Labucay K, Wolgast S, Peschke E. Loss of melatonin signalling and its impact on circadian rhythms in mouse organs regulating blood glucose. Eur J Pharmacol. 2009;606(1-3):61- 71.
38. Peschke E, Muhlbauer E, Musshoff U, Csernus VJ, Chankiewitz E, Peschke D. Receptor (MT(1)) mediated influence of melatonin on cAMP concentration and insulin secretion of rat insulinoma cells INS-1. J Pineal Res. 2002;33(2):63-71.
39. Peschke E, Bach AG, Muhlbauer E. Parallel signaling pathways of melatonin in the pancreatic beta-cell. J Pineal Res. 2006;40(2):184-91.
40. Masana MI, Dubocovich ML. Melatonin receptor signaling: finding the path through the dark. Sci Stke. 2001;2001(107):39.
41. Stumpf I, Muhlbauer E, Peschke E. Involvement of the cGMP pathway in mediating the insulin-inhibitory effect of melatonin in pancreatic beta-cells. J Pineal Res. 2008;45(3):318-27.
42. Stumpf I, Bazwinsky I, Peschke E. Modulation of the cGMP signaling pathway by melatonin in pancreatic beta-cells. J Pineal Res. 2009;46(2):140-7.
43. Lyssenko V, Nagorny CL, Erdos MR, Wierup N, Jonsson A, Spegel P, et al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet. 2009;41(1):82-8. This study provides a comprehansive description of in vitro and in vivo effects of originally discovered common variant SNP rs10830963 in the MTNR1B gene on islet function and risk of type 2 diabetes.
44. Bouatia-Naji N, Bonnefond A, Cavalcanti-Proenca C, Sparso T, Holmkvist J,MarchandM, et al.Avariant nearMTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. NatGenet. 2009;41(1):89-94. This is the first meta-Analysis of genomewide association studies for glucose and insulin levels. Together with another accompanying study (45) it identifies common variants in the MTNR1B gene to be associated with elevated glucose levels.
45. Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N, Thorleifsson G, et al. Variants in MTNR1B influence fasting glucose levels. Nat Genet. 2009;41(1):77-81.
46. Gonciarz M, Gonciarz Z, Bielanski W, Mularczyk A, Konturek PC, Brzozowski T, et al. The pilot study of 3-month course of melatonin treatment of patients with nonalcoholic steatohepatitis: effect on plasma levels of liver enzymes, lipids and melatonin. J Physiol Pharmacol: Off J Polish Physiol Soc. 2010;61(6):705-10.
47. Walford GA, Green T, Neale B, Isakova T, Rotter JI, Grant SF, et al. Common genetic variants differentially influence the transition from clinically defined states of fasting glucose metabolism. Diabetologia. 2012;55(2):331-9.
48. Barker A, Sharp SJ, Timpson NJ, Bouatia-Naji N,Warrington NM, Kanoni S, et al. Association of genetic Loci with glucose levels in childhood and adolescence: a meta-Analysis of over 6000 children. Diabetes. 2011;60(6):1805-12.
49. Bonnefond A, Clement N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, et al. Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat Genet. 2012;44(3):297-301. This is a first large scale exon re-sequencing study of the MTNR1B gene. It provides the first evidence on a number of rare variants in the MTNR1B gene with partial- or total-loss- offunction properties.
50. Kwak SH, Kim SH, Cho YM, Go MJ, Cho YS, Choi SH, et al. A genome-wide association study of gestational diabetes mellitus in Korean women. Diabetes. 2012;61(2):531-41.
51. Vlassi M, Gazouli M, Paltoglou G, Christopoulos P, Florentin L, Kassi G, et al. The rs10830963 variant of melatonin receptor MTNR1B is associated with increased risk for gestational diabetes mellitus in a Greek population. Hormones (Athens). 2012;11 (1):70-6.
52. Liao S, Liu Y, Tan Y, Gan L, Mei J, Song W, et al. Association of genetic variants of melatonin receptor 1B with gestational plasma glucose level and risk of glucose intolerance in pregnant Chinese women. PLoS One. 2012;7(7):e40113.
53. Wang Y, Nie M, LiW, Ping F, Hu Y, Ma L, et al. Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population. PLoS One. 2011;6(11):e26953.
54. Dietrich K, Birkmeier S, Schleinitz D, Breitfeld J, Enigk B, Muller I, et al. Association and evolutionary studies of the melatonin receptor 1B gene (MTNR1B) in the self-contained population of Sorbs from Germany. Diab Med: J Br Diabet Assoc. 2011;28 (11):1373-80.
55. Muhlbauer E, Albrecht E, Hofmann K, Bazwinsky-Wutschke I, Peschke E. Melatonin inhibits insulin secretion in rat insulinoma beta-cells (INS-1) heterologously expressing the human melatonin receptor isoform MT2. J Pineal Res. 2011;51(3):361-72.
56. Sparso T, Bonnefond A, Andersson E, Bouatia-Naji N, Holmkvist J, Wegner L, et al. G-Allele of intronic rs10830963 in MTNR1B confers increased risk of impaired fasting glycemia and type 2 diabetes through an impaired glucose-stimulated insulin release: studies involving 19,605. Diabetes. 2009;58(6):1450-6.
57. Vangipurapu J, Stancakova A, Pihlajamaki J, Kuulasmaa TM, Kuulasmaa T, Paananen J, et al. Association of indices of liver and adipocyte insulin resistance with 19 confirmed susceptibility loci for type 2 diabetes in 6,733 non-diabetic Finnish men. Diabetologia. 2011;54(3):563-71.
58. Garfinkel D, Zorin M, Wainstein J, Matas Z, Laudon M, Zisapel N. Efficacy and safety of prolonged-release melatonin in insomnia patients with diabetes: a randomized, doubleblind, crossover study. Diabetes Metab Syndr Obes: Targets Ther. 2011;4:307-13.
59. Peschke E, Hofmann K, Ponicke K, Wedekind D, Muhlbauer E. Catecholamines are the key for explaining the biological relevance of insulin-melatonin antagonisms in type 1 and type 2 diabetes. J Pineal Res. 2012;52(4):389-96.
60. Illig T, Gieger C, Zhai G, Romisch-Margl W, Wang-Sattler R, Prehn C, et al. A genome-wide perspective of genetic variation in human metabolism. Nat Genet. 2010;42(2):137-41.