Carriers of loss-of-function mutations in ABCA1 display pancreatic β-cell dysfunction

Diabetes Care

Volumn 33, Issue 4, 2010, Pages 869-874

  Vergeer, Menno ^a   Brunham, Liam R ^b   Koetsveld, Joris ^a   Kruit, Janine K ^b   Verchere, C Bruce ^b   Kastelein, John J P ^a   Hayden, Michael R ^b   Stroes, Erik S G ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ARGININE; CHOLESTEROL; GENOMIC DNA; GLUCOSE; INSULIN;

ADULT; ARTICLE; CHOLESTEROL METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; DIET RESTRICTION; FEMALE; GLUCOSE BLOOD LEVEL; GLUCOSE HOMEOSTASIS; HETEROZYGOTE; HUMAN; HYPERGLYCEMIA; INSULIN RELEASE; INSULIN RESISTANCE; INSULIN SENSITIVITY; LOSS OF FUNCTION MUTATION; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST; PANCREAS ISLET BETA CELL;

ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD GLUCOSE; FEMALE; GENOTYPE; GLUCOSE TOLERANCE TEST; HUMANS; INSULIN; INSULIN-SECRETING CELLS; LIPIDS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION;

EID: 77952406884     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc09-1562     Document Type: Article

References (24)

1. Prentki M, Nolan CJ. Islet β cell failure in type 2 diabetes. J Clin Invest 2006;116:1802-1812
2. Wajchenberg BL. β-Cell failure in diabetes and preservation by clinical treatment. Endocr Rev 2007;28:187-218
3. Nofer JR, Remaley AT. Tangier disease: still more questions than answers. Cell Mol Life Sci 2005;62:2150-2160
4. van Dam MJ, de Groot E, Clee SM, Hovingh GK, Roelants R, Brooks-Wilson A, Zwinderman AH, Smit AJ, Smelt AH, Groen AK, Hayden MR, Kastelein JJ. Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. Lancet 2002;359:37-42
5. Brunham LR, Kruit JK, Pape TD, Timmins JM, Reuwer AQ, Vasanji Z, Marsh BJ, Rodrigues B, Johnson JD, Parks JS, Verchere CB, Hayden MR. β-Cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment. Nat Med 2007;13:340-347
6. Villarreal-Molina MT, Aguilar-Salinas CA, Rodríguez-Cruz M, Riaño D, Villalobos-Comparan M, Coral-Vazquez R, Menjivar M, Yescas-Gomez P, Königsoerg-Fainstein M, Romero-Hidalgo S, Tusie-Luna MT, Canizales-Quinteros S. The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities. Diabetes 2007;56:1881-1887
7. Singaraja RR, Visscher H, James ER, Chroni A, Coutinho JM, Brunham LR, Kang MH, Zannis VI, Chimini G, Hayden MR. Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro. Circ Res 2006;99:389-397
8. Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999;22:336-345 (Pubitemid 29369523)
9. Kuivenhoven JA, Hovingh GK, van Tol A, Jauhiainen M, Ehnholm C, Fruchart JC, Brinton EA, Otvos JD, Smelt AH, Brown-lee A, Zwinderman AH, Hayden MR, Kastelein JJ. Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size. Atherosclerosis 2003;171:311-319
10. Marcil M, Brooks-Wilson A, Clee SM, Roomp K, Zhang LH, Yu L, Collins JA, van Dam M, Molhuizen HO, Loubster O, Francis Ouellette BF, Sensen CW, Fichter K, Mott S, Denis M, Boucher B, Pimstone S, Genest J, Kastelein JJ, Hayden MR. Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet 1999;354:1341-1346
11. Brunham LR, Singaraja RR, Hayden MR. Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. Annu Rev Nutr 2006;26:105-129
12. Matsuda M, DeFronzo RA. Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care 1999;22:1462-1470
13. Van Cauter E, Mestrez F, Sturis J, Polonsky KS. Estimation of insulin secretion rates from C-peptide levels. Comparison of individual and standard kinetic parameters for C-peptide clearance. Diabetes 1992;41:368-377
14. Nijpels G, Boorsma W, Dekker JM, Hoeksema F, Kostense PJ, Bouter LM, Heine RJ. Absence of an acute insulin response predicts onset of type 2 diabetes in a Caucasian population with impaired glucose tolerance. J Clin Endocrinol Metab 2008;93:2633-2638
15. Bergman RN, Ader M, Huecking K, Van CG. Accurate assessment of β-cell function: the hyperbolic correction. Diabetes 2002;51(Suppl. 1):S212-S220
16. Brunham LR, Kruit JK, Verchere CB, Hayden MR. Cholesterol in islet dysfunction and type 2 diabetes. J Clin Invest 2008;118:403-408
17. Straub SG, Sharp GW. Hypothesis: one rate-limiting step controls the magnitude of both phases of glucose-stimulated insulin secretion. Am J Physiol Cell Physiol 2004;287:C565-C571
18. Thams P, Capito K. L-Arginine stimulation of glucose-induced insulin secretion through membrane depolarization and independent of nitric oxide. Eur J Endocrinol 1999;140:87-93
19. Fajans SS, Floyd JC Jr, Knopf RF, Guntsche EM, Rull JA, Thiffault CA, Conn JW. A difference in mechanism by which leucine and other amino acids induce insulin release. J Clin Endocrinol Metab 1967;27:1600-1606
20. Fajans SS, Quibrera R, Pek S, Floyd JC Jr, Christensen HN, Conn JW. Stimulation of insulin release in the dog by a non-metabollizable amino acid. Comparison with leucine and arginine. J Clin Endocrinol Metab 1971;33:35-41
21. Smith PA, Sakura H, Coles B, Gummerson N, Proks P, Ashcroft FM. Electrogenic arginine transport mediates stimulus-secretion coupling in mouse pancreatic β-cells. J Physiol 1997;499(Pt 3):625-635 (Pubitemid 27153585)
22. Xia F, Gao X, Kwan E, Lam PP, Chan L, Sy K, Sheu L, Wheeler MB, Gaisano HY, Tsushima RG. Disruption of pancreatic β-cell lipid rafts modifies Kv2.1 channel gating and insulin exocytosis. J Biol Chem 2004;279:24685-24691
23. Hao M, Head WS, Gunawardana SC, Hasty AH, Piston DW. Direct effect of cholesterol on insulin secretion: a novel mechanism for pancreatic β-cell dysfunction. Diabetes 2007;56:2328-2338
24. Koseki M, Matsuyama A, Nakatani K, Inagaki M, Nakaoka H, Kawase R, Yuasa-Kawase M, Tsubakio-Yamamoto K, Masuda D, Sandoval C, Ohama T, Nakagawa-Toyama Y, Matsuura F, Nishida M, Ishigami M, Hirano KI, Sakane N, Kumon Y, Suehiro T, Nakamura T, Shimomura I, Yamashita S. Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. J Atheroscler Thromb 2009;16:292-296