MONOGENIC DIABETES-GENETICAL ASPECTS AND DIAGNOSIS CRITERIA |
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Written by Precup I., Precup L., Dumitra S., Ududec T.
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Article Title: |
MONOGENIC DIABETES-GENETICAL ASPECTS AND DIAGNOSIS CRITERIA |
Authors: |
Ioan Precup1*, Liana Precup1, Simona Dumitra1, Titus Ududec1 |
Affiliation: |
„Vasile Goldiş” Western University, Arad |
Abstract: |
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes. Some rare forms of diabetes result from mutations in a single gene and are called monogenic. In most cases of monogenic diabetes, the gene mutation is inherited. In the remaining cases the gene mutation develops spontaneously. Most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that helps the body use glucose for energy. Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes. MODY usually first occurs in children or adolescents but may be mild and not detected until adulthood. The authors described the most important clinical aspects of the MODY diabetes. |
Keywords: |
diabetes, monogenic, genetical aspects, clinical aspects, MODY |
References: |
• FAJENS S. S., BELL G.I., POLONSKY K. – Molecular mechanisms clinical pathophysiology of maturity-onset diabetes of the young - N. Engl. J. Med., 2001; 345: 971-80 • VELHO G., FROGUEL P. - Maturity-onset diabetes of the young (Mody), Mody genes, a non-insulin dependent diabetes mellitus, Diabetes Metab. 1997; 23 (suppl2): 34-7 • PEARSON E.R., BOJ S.F., STEELE A.M. – Macrosomia and hyperinsulinaemic hypoglycemia in patients with heterozygous mutations in the HNF4 gene, PLOS Med., 2007; 4:118 |
*Correspondence: |
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