Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population.

Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Research Abstract Details 

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Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Abstract Text:

The objective of this study was to investigate possible defects in the insulin sensitivity and/or the acute insulin response in a group of Mexican patients displaying early-onset type 2 diabetes and to evaluate the contribution of mutations in three of the genes linked to maturity-onset diabetes of the young. We studied 40 Mexican patients with an age of diagnosis between 20 and 40 yr in which the insulin sensitivity as well as the insulin secretory response were measured using the minimal model approach. A partial screening for possible mutations in 3 of the 5 genes linked to maturity-onset diabetes of the young was carried out by PCR-single strand conformation polymorphism analysis. A low insulin secretory capacity (AIRg = 68.5 +/- 5 muU/mL.min) and a near-normal insulin sensitivity (3.43 +/- 0.2 min/muU.mL x 10(4)) were found in these patients. Among this group we found two individuals carrying missense mutations in exon 4 of the hepatocyte nuclear factor-1alpha (HNF-4alpha) gene (Asp(126)-->His/Tyr and Arg(154)-->Gln, respectively) and one carrying a nonsense mutation in exon 7 of the HNF-1alpha gene (Gln(486)-->stop codon); 7.5% had positive titers for glutamic acid decarboxylase antibodies. Thirty-five percent of cases had insulin resistance; these subjects had the lipid abnormalities seen in the metabolic syndrome. A defect in insulin secretion is the hallmark in Mexican diabetic patients diagnosed between 20 and 40 yr of age. Mutations in either the HNF-1alpha or the HNF-4alpha genes are present among the individuals who develop early-onset diabetes in our population. These particular sequence changes have not been previously reported and therefore represent putative new mutations. Even in the absence of endogenous hyperinsulinemia, insulin resistance is associated with an adverse lipid profile.

Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Publishing Authors By Initials

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

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Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The Journal of clinical endocrinology and metaboli

VOLUME: 86

Page Numbers: 220-6

Journal Abbreviation: J. Clin. Endocrinol. Metab.

ISSN: 0021-972X

DAY: 14

MONTH: Jan

YEAR: 2001

Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Information

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LANGUAGE: eng

NlmUniqueID: 375362

Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. Information

Substance Name: Glutamate Decarboxylase

Registry Number: EC 4.1.1.15

Grant and Affiliation Information for Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population.

AFFILIATION: Departmento de Medicina y Unidad de Genética de la Nutrición del Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico. caas@aztlan.innsz.mx

Country: United States

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MEDLINETA: J Clin Endocrinol Metab

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