Should the negativity for islet cell autoantibodies be used in a prescreening for genetic testing in maturity-onset diabetes of the young? The case of autoimmunity-associated destruction of pancreatic β-cells in a family of HNF1A-MODY subjects

International Archives of Allergy and Immunology

Volumn 161, Issue 3, 2013, Pages 279-284

  Urbanová, Jana ^a   Rypáčková, Blanka ^a   Kučera, Petr ^a   Anděl, Michal ^a   Heneberg, Petr ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Diabetes mellitus; Islet cell autoimmunity; Maturity onset diabetes of the young

Indexed keywords

EID: 84875663030     PISSN: 10182438     EISSN: 14230097     Source Type: Journal    
DOI: 10.1159/000346906     Document Type: Article

References (23)

1. Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A. Mutations at the BLK locus linked to maturity onset diabetes of the young and β-cell dysfunction. Proc Natl Acad Sci USA 2009; 106: 14460-14465
2. Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, Holl RW. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicenter database. Diabet Med 2009; 26: 466-473
3. 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 2011; 28: 1028-1033
4. Bazalovà Z, Rypàckovà B, Brož J, Brunerovà L, Polàk J, Rušavý Z, Trešlovà L, Andel M. Three novel mutations in MODY and its phenotype in three different Czech families. Diabetes Res Clin Pract 2010; 88: 132-138
5. Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006; 27: 854-869
6. Frayling TM, Bulman MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, Bain SC, Hattersley AT. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1997; 46: 720-725
7. Chevre J-C, Hani EH, Boutin P, Vaxillaire M, Blanché H, Vionnet N, Pardini VC, Timsit J, Larger E, Charpentier G, Beckers D, Maes M, Bellanné-Chantelot C, Velho G, Froguel P. Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. Diabetologia 1998; 41: 1017-1023
8. Dalgaard LT, Ambye L, Hansen T, Moller AM, Hansen L, Fridberg M, Urhammer SA, Pedersen O. The prevalence of MODY3 among Danish MODY families and identification of 8 novel MODY3 mutations in hepatocyte nuclear factor-1α. Diabetologia 1998; 41:A105
9. Yamada S, Tomura H, Nishigori H, Sho K, Mabe H, Iwatani N, Takumi T, Kito Y, Moriya N, Muroya K, Ogata T, Onigata K, Morikawa A, Inoue I, Takeda J. Identification of mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. Diabetes 1999; 48: 645-648
10. Barrio R, Bellanné-Chantelot C, Moreno JC, Morel V, Calle H, Alonso M, Mustieles C. Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab 2002; 87: 2532-2539
11. Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, Mori M, Takeda J. High frequency of mutations in the HNF-1α gene (TCF1) in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 2002; 45: 1709-1712
12. Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Half of clinically defined maturityonset diabetes of the young patients in Denmark do not have mutations in HNF4A , GCK , and TCF1 . J Clin Endocrinol Metab 2005; 90: 4607-4614
13. Stern E, Strihan C, Potievsky O, Nimri R, Shalitin S, Cohen O, Shehadeh N, Weintrob N, Phillip M, Gat-Yablonski G. Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4α, GCK and TCF1 in patients with MODY in Israel. J Pediatr Endocrinol Metab 2007; 20: 909-921
14. Jeannot E, Mellottee L, Bioulac-Sage P, Balabaud C, Scoazec JY, Tran Van Nhieu J, Bacq Y, Michalak S, Buob D, Laurent-Puig P, Rusyn I, Zucman-Rossi J. Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage. Diabetes 2010; 59: 1836-1844
15. Chi Y-I, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S, Shoelson SE. Diabetes mutations delineate an atypical POU domain in HNF-1α. Mol Cell 2002; 10: 1129-1137
16. Vaxillaire M, Abderrahman A, Boutin P, Bailleul B, Froguel P, Yaniv M, Pontoglio M. Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. J Biol Chem 1999; 274: 35639-35646
17. Gu N, Adachi T, Matsunaga T, Takeda J, Tsujimoto G, Ishihara A, Yasuda K, Tsuda K. Mutant HNF-1α and mutant HNF-1β identified in MODY3 and MODY5 downregulate DPPIV gene expression in Caco-2 cells. Biochem Biophys Res Commun 2006; 346: 1016-1023
18. Leslie RDG, Atkinson MA, Notkins AL. Autoantigens IA-2 and GAD in type I (insulindependent) diabetes. Diabetologia 1999; 42: 3-14
19. Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ, Ellard S, Farmer AJ, McCarthy MI, Owen KR. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care 2012; 35: 1206-1212
20. Aguilera E, Casamitjana R, Ercilla G, Oriola J, Nicoletti F, Gomis R, Conget I. Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with type 1 diabetes without pancreatic autoantibodies. Diabet Med 2005; 22: 137-146
21. Calcaterra V, Martinetti M, Salina A, Aloi C, Larizza D. The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl. Acta Diabetol 2012;49:401-404
22. Miura J, Sanaka M, Ikeda Y, Watanabe C, Nakagami T, Iwasaki N, Uchigata Y, Takahashi C, Omori Y, Iwamoto Y. A case of type-1 diabetes mellitus formerly diagnosed as maturity-onset diabetes of the young (MODY) carrying suggestive MODY3 gene. Diabetes Res Clin Pract 1998; 38: 139-141
23. Bowden SA, Hoffman RP. Triple diabetes: coexistence of type 1 diabetes mellitus and a novel mutation in the gene responsible for MODY3 in an overweight adolescent. Pediatr Diabetes 2008; 9: 162-164