Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

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 journalJournal articleResearchpeer-review

Harvard

Hansen, T, Urhammer, SA & Pedersen, OB 2002, 'Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika', Ugeskrift for Laeger, vol. 164, no. 15, pp. 2017-22.

APA

Hansen, T., Urhammer, S. A., & Pedersen, O. B. (2002). Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika. Ugeskrift for Laeger, 164(15), 2017-22.

Vancouver

Hansen T, Urhammer SA, Pedersen OB. Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika. Ugeskrift for Laeger. 2002;164(15):2017-22.

Author

Hansen, Torben ; Urhammer, Søren A ; Pedersen, Oluf Borbye. / Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika. In: Ugeskrift for Laeger. 2002 ; Vol. 164, No. 15. pp. 2017-22.

Bibtex

@article{b0797f50378f4a589d35750b6cac8d8e,
title = "Maturity-onset diabetes of the young--MODY. Molekylaergenetiske, patofysiologiske og kliniske karakteristika",
abstract = "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.",
keywords = "Diabetes Mellitus, Type 2, Glucokinase, Humans, Insulin, Mutation, Nuclear Proteins, Receptors, Cytoplasmic and Nuclear, Transcription Factors",
author = "Torben Hansen and Urhammer, {S{\o}ren A} and Pedersen, {Oluf Borbye}",
year = "2002",
language = "Dansk",
volume = "164",
pages = "2017--22",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "15",

}

RIS

TY - JOUR

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

VL - 164

SP - 2017

EP - 2022

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 15

ER -

ID: 38454465