Genetic variability of the fructosamine 3-kinase gene in diabetic patients
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Lorena Mosca
Abstract
Background: Nonenzymatic glycation appears to be an important factor in the pathogenesis of diabetic complications. Fructosamine 3-kinase (FN3K), initially identified in erythrocytes, appears to be responsible for the removal of fructosamine from proteins, suggesting a protective role in nonenzymatic glycation. Recently, genetic variants in the FN3K gene have been studied in diabetic patients. The aim of our study was the molecular characterization of the FN3K gene in a representative group of Italian patients with type 1 (T1DM) and 2 (T2DM) diabetes mellitus and in a cohort of healthy controls.
Methods: Seventy diabetic subjects (35 type 1 and 35 type 2) with stable glycemic control and 33 healthy control subjects were evaluated using PCR and direct sequencing of the FN3K gene. Denaturing high performance liquid chromatography (DHPLC) was used in controls for screening for the presence of the genetic variants previously found in diabetic patients.
Results: Seven different genetic variants were identified, five of them already reported and two new: the p.R187X and p.Y239C mutations identified in two females affected by T2DM. No significant association was found between certain polymorphisms and diabetes conditions. Preliminary haplotype studies are also reported. With respect to genotypes, we noted that some were not present in all the investigated cohort, and some were found related to higher glycated hemoglobin compared to others, although not at a significant level, probably because of the small number of subjects investigated.
Conclusions: In conclusion, this study identified two new mutations and additional variants within the FN3K gene. This is the first study on FN3K in Italy. Future work is needed to achieve a better understanding of the FN3K enzyme and its possible clinical utility in the management of diabetic patients.
©2011 by Walter de Gruyter Berlin New York
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Articles in the same Issue
- Editorials
- Laboratory testing and/or monitoring of the new oral anticoagulants/antithrombotics: for and against?
- Circulating macrocomplexes: old wine in new bottles?
- Review
- Laboratory assessment of new anticoagulants
- Minireviews
- Biomarkers in Alzheimer’s disease
- Analytical variability in sport hematology: its importance in an antidoping setting
- The plodding diagnosis of monogenic autoinflammatory diseases in childhood: from the clinical scenery to laboratory investigation
- Opinion Paper
- Collective opinion paper on findings of the 2010 convocation of experts on laboratory quality
- Genetics and Molecular Diagnostics
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- Identification of Bcl-2/IgH fusion sequences using real-time PCR and chip-based microcapillary electrophoresis
- Performance evaluation of a multiplex assay for future use in biomarker discovery efforts to predict body composition
- Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes
- General Clinical Chemistry and Laboratory Medicine
- Quality Indicators in Laboratory Medicine: from theory to practice
- Implementation of computerized add-on testing for hospitalized patients in a large academic medical center
- Human growth hormone (GH) immunoassay: standardization and clinical implications
- Coagulation assays based on the Luminescent Oxygen Channeling Immunoassay technology1)
- Trefoil factor family peptides in human saliva and cyclical cervical mucus. Method evaluation and results on healthy individuals
- Steroid binding properties of the 2nd WHO International Standard for sex hormone-binding globulin
- Thyroxin overdose due to rheumatoid factor interferences in thyroid-stimulating hormone assays
- Cancer Diagnostics
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- Infectious Diseases
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- Cardiovascular Diseases
- Carotid restenosis is associated with plasma ADMA concentrations in carotid endarterectomy patients
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- An increase in serum uric acid concentrations is associated with an increase in the Framingham risk score in Korean adults
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