Mutations in MODY genes are not common cause of early-onset type 2 diabetes in Mexican families

Journal of the Pancreas

Volumn 6, Issue 3, 2005, Pages 238-245

  Domínguez López, Aarón ^a   Miliar García, Ángel ^a,b   Segura Kato, Yayoi X ^a   Riba, Laura ^a   Esparza López, José ^a   Ramírez Jiménez, Salvador ^a   Rodríguez Torres, Maribel ^a   Canizales Quinteros, Samuel ^a   Cabrera Vásquez, Siraam ^a   Fragoso Ontiveros, Verónica ^a   Aguilar Salinas, Carlos A ^c   Altamirano Bustamante, Nelly ^d   Calzada León, Raúl ^d   Robles Valdés, Carlos ^d   Bravo Ríos, Luz E ^e   Tusié Luna, Maria Teresa ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b INSTITUTO POLITÉCNICO NACIONAL   (Mexico)

^c INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^d INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^e 'La Raza' National   (Mexico)

Author keywords

Genetics; Mexico; Polymorphism, genetic

Indexed keywords

GLIBENCLAMIDE PLUS METFORMIN; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; NEUROGENIC DIFFERENTIATION FACTOR; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DIET THERAPY; EXERCISE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MEXICO; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; PROMOTER REGION;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BLOTTING, WESTERN; COHORT STUDIES; DIABETES MELLITUS, TYPE 2; DNA; FEMALE; GENES, DOMINANT; GENETIC SCREENING; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEPATOCYTE NUCLEAR FACTOR 4; HOMEODOMAIN PROTEINS; HUMANS; MALE; MEXICO; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TRANS-ACTIVATORS; TRANSFECTION;

EID: 27644491272     PISSN: 15908577     EISSN: 15908577     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Zimmet P, Alberti KG, Shaw J. Global and social implications of the diabetic epidemic. Nature 2001; 414:782-7.
2. Aguilar-Salinas CA, Rojas RF, Gómez-Pérez J, García E, Valles V, Ríos-Torres JM, et al. Prevalence and characteristic of early-onset type 2 diabetes in Mexico. Am J Med 2002; 113:569-74.
3. Olaiz G, Rojas R, Barquera S, Shamah T, Aguilar C, Cravioto P, López P, Hernández M, Tapia R, Sepúlveda J. Encuesta Nacional de Salud 2000. Tomo 2. La Salud de los adultos.Cuernavaca Morelos, México Instituto Nacional de Salud Publica.
4. Aguilar-Salinas CA, Velazquez Monroy O, Gomez-Perez FJ, Gonzalez Chavez A, Esqueda AL, Molina Cuevas V, et al. Characteristics of the patients with type 2 diabetes in Mexico: results from a large population-based, nation wide survey. Diabetes Care 2003; 26:2021-6.
5. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, et al. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328:697-702.
6. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, et al. Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996; 384:458-60.
7. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire H, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384:455-8.
8. Stoffers DA, Ferrer J, Clarke WL, Habener HL. Early-onset type- II diabetes (MODY4) linked to IPF-1. Nat Genet 1997; 17:138-9.
9. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, et al. Mutations in the hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997; 17:384-5.
10. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23:323-8.
11. Velho G, Robert JJ. Maturity-Onset Diabetes of the Young (MODY): Genetic and Clinical Characteristics. Horm Res 2002; 57:29-33.
12. Triggs-Raine BL, Kirkpatrick RD, Kelly SL, Norquay LD, Cattini PA, Yamagata K, et al. HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community. Proc Natl Acad Sci USA 2002; 99:4614-9
13. Hani EH Suaud L, Boutin P, Chevre JC, Durand E, Philippi A, et al. A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. J Clin Invest 1998; 101:521-6.
14. Sakurai K, Seki N, Fujii R, Yagui K, Tokuyama Y, Shimada F, et al. Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b. Horm Metab Res 2000; 32:316-20.
15. Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, et al. Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest 1999; 104:R33-9.
16. Del Bosque-Plata L, García-García E, Ramírez-Jiménez S, Cabello-Villegas J, Riba L, Gomez-León A. et al. Analysis of the glucokinase gene in Mexican families displaying early-onset non-insulin dependent diabetes mellitus including MODY families. Am J Med Genet 1997; 72:387-93.
17. Lehto M, Wipemo C, Ivarsson SA, Linfgren C, Lipsanen-Nyman M, Weng J. et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 1999; 42:1131-7.
18. Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SMS, Roosen S, et al A distant upstream promoter of the HNF-4alpha . gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet 2001; 10:2089-97.
19. Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mut 2000; 16:377-85.
20. Shih DQ, Stoffel M. Molecular etiologies of MODY and other early-onset forms of diabetes. Curr Diab Rep 2002; 2:125-34.
21. Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 2001; 50:S94.
22. 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 Endo Metab 2002; 87:2532-9.
23. Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M, et al. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia 2003; 46:291-5.
24. Tonooka N, Tomura H, Takahashi Y, Onigata K, Kikuchi N, Horikawa Y, et al. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance. Diabetologia 2002; 45:1709-12.
25. Bjorkhaug L, Sagen JV, Thorsby P, Sovik O, Molven A, Njolstad PR Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. J Clin Endocrinol Metab 2003; 88:920-31.
26. Velho G, Froguel P. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. Eur J Endocrinol 1998; 138:233-9.
27. Frayling TM, Lingren CM, Chevre JC, Menzel S, Wishart M, Benmerzroua Y, et al. A genome-wide scan in families with maturity-onset diabetes of the young. Diabetes 2003; 52:872-81.
28. Kim SH, Ma X, Weremowicz S, Ercolino T, Powers C, Mlynarski W, et al. Identification of a locus for maturity-onset diabetes of the young on chromosome 8p23. Diabetes 2004; 53:1375-84.
29. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993; 2:338-46.
30. Bunn CF, Lintott CJ, Scott RS, George PM. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. Hum Mutat 2002, 19:311-3.
31. Fan E, Levin DB, Glickman BW, Logan DM. Limitations in the use of SSCP analysis Mutat Res 1993; 283:85-92.
32. Moises SR, Reis AF, Morel V. Prevalence of Maturity-onset diabetes of the young mutations in Brazilian families with amosomal dominant early-onset type 2 diabetes. Diabetes Care 2001; 24:786-7.
33. Allayee H, Parker D, Stammreich A, Canales J, Scheel G, Lusis A, Ipp E. Mutations in the genes for MODY are not a common cause of early-onset type 2 diabetes in minority populations. American Society of Human Genetics, Annual Meeting 2004 Abstract 2177.