Synonyms
Maturity onset diabetes of the young
Definition and Characteristics
A group of monogenic, autosomal dominant pancreatic beta cell defects leading to the onset of nonketotic diabetes mellitus before the age of 25.
Prevalence
1–5% of all cases of diabetes mellitus.
Genes
MODY-1: HNF-4a (hepatocyte nuclear factor-4a) is localized on chromosome 20
MODY-2: Glucokinase is localized on chromosome 7
MODY-3: HNF-1a (hepatocyte nuclear factor-1a) is localized on chromosome 12
MODY-4: IPF-1 (Insulin Promoter Factor-1) is localized on chromosome 13
MODY-5: HNF-1b (hepatocyte nuclear factor-1b) is localized on chromosome 17
MODY-6: NEURO-D1 (neurogenic differentiation factor-1), also known as BETA2 (beta-cell E-box transactivator-2) is localized on chromosome 2.
Molecular and Systemic Pathophysiology
HNF proteins (hepatocyte nuclear factors) are transcription factors that were first described in the liver. They are highly expressed in pancreatic beta cells, where they not only play a...
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References
Winter WE (2003) Newly defined genetic diabetes syndromes: maturity onset diabetes of the young. Rev Endocr Metab Disord 4:43–51
Malecki MT, Jhala US, Antonellis A et al. (1999) Mutations in NEURO 1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23:323–328
Yagamata K, Furuta H, Oda N et al. (1996) Mutations in the hepatocyte nuclear factor-4a gene in maturity-onset diabetes of the young (MODY1). Nature 384:458–460
Yamagata K, Oda N, Kaisaki PJ et al. (1996) Mutations in the hepatocyte nuclear factor-1a gene in maturity-onset diabetes of the young (MODY3). Nature 384:455–458
Froguel P, Zouali H, Vionnet N et al. (1993) Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697–702
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Bornstein, S.R., Schinner, S. (2009). MODY. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1110
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1110
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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