Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 2, 2006, Pages 143-148

  Kagami Takasugi, Masayo ^a   Katsumata, Noriyuki ^a   Tanaka, Toshiaki ^a   Tajima, Toshihiro ^b   Fujieda, Kenji ^c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

HNF 1 ; HNF 1 ; HNF 4 ; MODY; Mutation

Indexed keywords

GUANINE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; ORAL ANTIDIABETIC AGENT; THYMINE;

ARTICLE; CHILD; CONTROLLED STUDY; DIABETOGENESIS; FEMALE; GENE EXPRESSION REGULATION; GENE OVEREXPRESSION; GENE TARGETING; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; JAPAN; JUVENILE DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; MATURITY ONSET DIABETES MELLITUS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; PREVALENCE; PROMOTER REGION; TRANSCRIPTION INITIATION; WILD TYPE;

EID: 33644747220     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.2.143     Document Type: Article

References (23)

1. WHO Study Group: Report of a WHO Consultation. Part 1 Diagnosis and Classification of Diabetes Mellitus. Geneva: World Health Organization, 1999.
2. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 2002; 25 (Suppl): S5-S20.
3. Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001; 345: 971-980.
4. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt A, Beckman JS, Bell GI, Cohen D. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328: 697-702.
5. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chevre JC, Froguel P, Bell GI. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-458.
6. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI. Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996; 384: 458-460.
7. Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997; 17: 138-139.
8. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nat Genet 1997; 17: 384-385.
9. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23: 323-328.
10. Frayling TM, Bulamn 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.
11. Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J. Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM. Diabetes 1997; 46: 1643-1647.
12. Yoshiuchi I, Yamagata K, Yang Q, Iwahashi H, Okita K, Yamamoto K, Oue T, Imagawa A, Hamaguchi T, Yamasaki T, Horikawa Y, Satoh T, Nakajima H, Miyazaki J, Higashiyama S, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y. Three new mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization. Diabetologia 1999; 42: 621-626.
13. 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.
14. Owen KR, Stride A, Ellard S, Hattersley AT. Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care 2003; 26: 2088-2093.
15. Barrio R, Bellanne-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.
16. Gragnoli C, Lindner T, Cockburn BN, Kaisaki PJ, Gragnoli F, Marozzi G, Bell GI. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4α binding site in the promoter of the hepatocyte nuclear factor-1α gene. Diabetes 1997; 46: 1648-1651.
17. Godart F, Bellanne-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanche H, Boutin P, Chevre JC, Froguel P, Bailleul B. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1α (TCF1) promoter, region in MODY patients. Hum Mutat 200; 15: 173-180.
18. Kawasaki E, Sera Y, Yamakawa K, Abe T, Ozaki M, Uotani S, Ohtsu N, Takino H, Yamasaki H, Yamaguchi Y, Matsuura N, Eguchi K. Identification and functional analysis of mutations in the hepatocyte nuclear factor-1α gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes. J Clin Endocrinol Metab 2000; 85: 331-335.
19. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-332.
20. Matsuda A, Kuzuya T, Iwamoto Y, Yoshioka N, Awata T, Kumakura S, Ohwada N. HLA DR antigens in adult-onset and juvenile-onset Japanese insulin-dependent diabetic patients. Diabetes Res Clin Pract 1988; 5: 107-112.
21. Hansen SK, Parrizas M, Jensen ML, Pruhova S, Ek J, Boj SF, Johansen A, Maestro MA, Rivera F, Eiberg H, Andel M, Lehl J, Pedersen O, Ferrer J, Hansen T. Genetic evidence that HNF-1α-dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function. J Clin Invest 2002; 110: 827-833.
22. Boj SF, Parrizas M, Maestro MA, Ferrer J. A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci USA 2001; 98: 14481-14486.
23. Shih DQ, Screenan S, Munoz KN, Philipson L, Pontoglio M, Yaniv M, Polonsky KS, Stoffel M. Loss of HNF-1α function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 2001; 50: 2472-2480.