Different genes, different diabetes: lessons from maturity-onset diabetes of the young.

Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Research Abstract Details 

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Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Abstract Text:

Maturity-onset diabetes of the young (MODY) is a genetic subgroup of diabetes characterised by an autosomal dominant inheritance and early onset, non-insulin dependent diabetes. This results from a monogenic defect causing beta-cell dysfunction. The defining of five genes in which mutations cause MODY has allowed us to understand the clinical heterogeneity seen in this condition and can guide clinical management. Mutations in the glucokinase gene lead to stable hyperglycaemia, complications are unusual and treatment is rarely needed. Glucokinase patients are often detected during screening in pregnancy. While maternal mutations increase birth weight by increasing maternal glycaemia, fetal mutations reduce birth weight by reducing fetal insulin secretion. Patients with mutation in genes encoding the transcription factors, hepatocyte nuclear factor (HNF)- 1alpha, HNF-4alpha, HNF-1beta and insulin promoter factor 1 (IPF-1) have a common progressive beta-cell failure resulting in increasing hyperglycaemia and treatment requirements. These patients are at risk of developing microvascular complications. They show a pharmacogenetic effect with a specific sensitivity to sulphonylureas. Patients with transcription factor mutations have a range of discrete extra-pancreatic phenotypes including a low renal threshold for glucose with HNF-1alpha mutations, altered lipids and lipoproteins with HNF-4alpha mutations and a variety of cystic renal diseases and uterine and genital developmental disorders with HNF-1beta mutations. Molecular genetic testing is now available in routine clinical practice.This allows confirmation of a diagnosis of MODYand defines the subgroup. Differences in prognosis and treatment strongly support the increased use of molecular genetic testing in diabetes.

Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Publishing Authors By Initials

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Journal Published:

PUBLICATION TYPE: Review

Journal: Annals of medicine

VOLUME: 34

Page Numbers: 207-16

Journal Abbreviation: Ann. Med.

ISSN: 0785-3890

DAY: 14

MONTH: 05

YEAR: 2002

Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Information

Number of References: 74

LANGUAGE: eng

NlmUniqueID: 8906388

Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Information

Substance Name: Glucokinase

Registry Number: EC 2.7.1.2

Grant and Affiliation Information for Different genes, different diabetes: lessons from maturity-onset diabetes of the young.

AFFILIATION: Department of Diabetes, University of Exeter, Devon, UK.

Country: Sweden

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MEDLINETA: Ann Med

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