The Results of the Genetic Predisposition to Type 2 Diabetes Mellitus (Mitochondrial Diabetes) Determination Among Population of Prykarpattya Region According to the Indices of Carbohydrate Metabolism Evaluation
Journal: Lviv Clinical Bulletin (Vol.4, No. 4)Publication Date: 2013-12-11
Authors : Ya. Tomashevskiy; Yu. Vendzylovych; N. Tomashevska; L. Hrupovych; N. Danylevych; M. Hrupovych; I. Sulyga; M. Firchuk;
Page : 23-26
Keywords : citric acid cycle; Mitochondrial diabetes; pyruvate dehydrogenase; type 2 diabetes mellitus; α-ketoglutarate dehydrogenase;
Abstract
Introduction. Considering the urgent need to optimize the methods for preventing diabetes mellitus, it is important to find the methods of early diagnosis of carbohydrate metabolism disorders that precede the manifestation of type 2 diabetes mellitus and to promote the method of self-monitoring of carbohydrate metabolism available in Ukraine and abroad for each family. In connection with the peculiarities of energy metabolism, the expediency of studying the pyruvate dehydrogenase activity of blood for the purpose of early diagnosis of diabetes mellitus is obvious. Aim. To identify the persons with a hereditary predisposition to type 2 diabetes mellitus (with mitochondrial diabetes) in the population of the Prykarpattya region using the assessment of carbohydrate metabolism. To recommend the use of a bloodless visual method of studying the total content of α-ketoacids in the urine. Materials and methods. Into the study there were involved 292 practically healthy residents of the Prykarpattya region (166 men and 126 women aged 6 to 80 years) in which the blood glucose level did not exceed 5.6 mmol (100.8 mg%). The state of carbohydrate metabolism was evaluated using pyruvate dehydrogenase and α-ketoglutarate dehydrogenase tests. The monitoring was performed by indicators of pyruvate dehydrogenase activity in blood of healthy persons in the range of 8.01-16.30 μcat/l, as well as the 2-hour α-ketoneuria (6.4-11.4 mg, p <0,01), which was accepted as normal. Results Hereditary predisposition to type 2 diabetes mellitus (mitochondrial diabetes) was detected in 40.76% of the subjects. Of these, 7.88% is due to pyruvate dehydrogenase deficiency and 32.88% of α-ketoglutarate dehydrogenase deficiency. It let us determine a genetic predisposition to type 2 diabetes mellitus (mitochondrial diabetes) in 40.76 % of the patients, in particular, in 7.88 % – due to pyruvate dehydrogenase deficiency and in 32.88 % – due to α-ketoglutarate dehydrogenase deficiency. Conclusions. So, it is recommended to use at home a bloodless visual research method of α-keto acids total amount detection in the urine available to every family, as an effective way of self-control of carbohydrate metabolism, which will facilitate the identification of the individuals with inherited predisposition to the disorders of carbohydrate metabolism (mitochondrial diabetes), followed by the manifestation of type 2 diabetes mellitus and will allow to take the necessary measures to prevent its occurrence.
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