Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika
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Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika. / Hansen, Torben; Urhammer, Søren A; Pedersen, Oluf Borbye.
In: Ugeskrift for Laeger, Vol. 164, No. 15, 2002, p. 2017-22.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika
AU - Hansen, Torben
AU - Urhammer, Søren A
AU - Pedersen, Oluf Borbye
PY - 2002
Y1 - 2002
N2 - Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of type 2 diabetes characterised by an early onset, an autosomal dominant inheritance, and a primary defect in insulin secretion. MODY comprises 2-5% of cases of type 2 diabetes. So far, six MODY genes have been identified (MODY1-6): hepatocyte nuclear factor (HNF-4 alpha), glucokinase, HNF-1 alpha, HNF-1 beta, insulin promoter factor 1(IPF-1), and neurogenic differentiation factor 1 (NEUROD1). MODY2 and MODY3 are the most common forms of MODY. Mutations in glucokinase/MODY2 result in a mild form of diabetes. In contrast, MODY3 and some of the other MODY forms are characterised by major insulin secretory defects and severe hyperglycaemia associated with microvascular complications. About 25% of known MODY is caused by mutations in yet unknown genes and present results suggest that other monogenic forms of type 2 diabetes might exist. The diagnosis of MODY has implications for the clinical management of the patient's diabetes. The identification of MODY genes also opens new perspectives in the understanding of the molecular basis of diabetes and may probably contribute to the definition of novel targets for drug development and gene therapy.
AB - Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of type 2 diabetes characterised by an early onset, an autosomal dominant inheritance, and a primary defect in insulin secretion. MODY comprises 2-5% of cases of type 2 diabetes. So far, six MODY genes have been identified (MODY1-6): hepatocyte nuclear factor (HNF-4 alpha), glucokinase, HNF-1 alpha, HNF-1 beta, insulin promoter factor 1(IPF-1), and neurogenic differentiation factor 1 (NEUROD1). MODY2 and MODY3 are the most common forms of MODY. Mutations in glucokinase/MODY2 result in a mild form of diabetes. In contrast, MODY3 and some of the other MODY forms are characterised by major insulin secretory defects and severe hyperglycaemia associated with microvascular complications. About 25% of known MODY is caused by mutations in yet unknown genes and present results suggest that other monogenic forms of type 2 diabetes might exist. The diagnosis of MODY has implications for the clinical management of the patient's diabetes. The identification of MODY genes also opens new perspectives in the understanding of the molecular basis of diabetes and may probably contribute to the definition of novel targets for drug development and gene therapy.
KW - Diabetes Mellitus, Type 2
KW - Glucokinase
KW - Humans
KW - Insulin
KW - Mutation
KW - Nuclear Proteins
KW - Receptors, Cytoplasmic and Nuclear
KW - Transcription Factors
M3 - Tidsskriftartikel
C2 - 11984998
VL - 164
SP - 2017
EP - 2022
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 15
ER -
ID: 38454465