Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase.

Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Research Abstract Details 

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Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Abstract Text:

AIMS/HYPOTHESIS: Maturity-onset-diabetes of the young (MODY) is caused by mutations in at least five different genes. Our aim was to determine the prevalence of the most common MODY genes in Italian families with early-onset Type II (non-insulin-dependent) diabetes mellitus. METHODS: We screened 28 Italian early-onset Type II diabetic families (diagnosis < 35 years) for mutations in the hepatic nuclear factor-4 alpha, (MODY1), glucokinase (MODY2) and hepatic nuclear factor-1 alpha (MODY3). Both strands of exons, flanking introns and minimal promoter regions of the above-mentioned genes were amplified using polymerase chain reaction and were sequenced directly. RESULTS: We identified four different mutations, three of which are not described, (W113X, G42P43fsCC --> A, H514R) and four new polymorphisms (G184G, T513T, IVS3-nt47delG, IVS1- nt53C --> G) in the hepatic nuclear factor-1 alpha gene, two new potential mutations (G44S, IVS4nt + 7C --> T) and three new polymorphisms (promoter-nt84C --> G, IVS9 + nt8C --> T, IVS9 + nt49G --> A) in the glucokinase gene, and a new polymorphism (IVS1c-nt11T --> G) in the hepatic nuclear factor-4 alpha gene. CONCLUSION/INTERPRETATION: Mutations in the hepatic nuclear factor-1 alpha and glucokinase are associated with Type II diabetes in 14 % and 7 % of Italian families, respectively. Our findings provide an impetus for screening Italian MODY and early-non Type II diabetic families for mutations in the above mentioned genes to identify relatives at risk who could benefit from primary prevention care. [

Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Publishing Authors By Initials

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

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Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Diabetologia

VOLUME: 44

Page Numbers: 1326-9

Journal Abbreviation: Diabetologia

ISSN: 0012-186X

DAY: 14

MONTH: Oct

YEAR: 2001

Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 6777

Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Information

Substance Name: Glucokinase

Registry Number: EC 2.7.1.2

Grant and Affiliation Information for Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase.

AFFILIATION: Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biology and Medicine, University of Chicago, Chicago, Illinois, USA. cgragnoli@partners.org

Country: Germany

AGENCY: United States NIDDK

GRANT: DK-44840

ACRONYM: DK

MEDLINETA: Diabetologia

REFSOURCE: Diabetologia. 2002 May;45(5):748

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