ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE

• Published in: Ėksperimental'nai͡a︡ i klinicheskai͡a︡ gastroėnterologii͡a no. 3; p. 39
• Main Authors: Krivosheev, A B, Maximov, V N, Voevoda, M I, Kuimov, A D, Kondratova, M A, Tuguleva, T A, Koval, O N, Bezrukova, A A, Bogorianova, P A, Rybina, O V
• Format: Journal Article
• Language: Russian
• Published: Russia (Federation) 2015
• Subjects: Adult; Aged; Alleles; Amino Acid Substitution; Female; Gene Frequency; Genetic Predisposition to Disease; Hemochromatosis Protein; Histocompatibility Antigens Class I - genetics; Histocompatibility Antigens Class I - metabolism; Humans; Insulin Resistance - genetics; Male; Membrane Proteins - genetics; Membrane Proteins - metabolism; Middle Aged; Mutation, Missense; Non-alcoholic Fatty Liver Disease - genetics; Non-alcoholic Fatty Liver Disease - urine; Porphyrias - blood; Porphyrias - genetics; Porphyrias - urine
• ISSN: 1682-8658

The aim of the present work was to study the frequency of genotypes and alleles of C282Y and H63D HFE gene that may be associated with impaired porphyrin metabolism, as well as possible reasons for the formation of dysmetabolism porphyrins with NAFLD.
The study involved 65 patients (52 men and 13 women) aged 21 to 69 years (mean age 48.5±1.5 years). Excretion uroporphyrin, coproporphyrin, 6-aminolevulinic acid of porphobilinogen in urine was determined by chromatography and spectrophotometry calculated total excretion of porphyrins. Allele frequencies C282Y and H63D were determined during the molecular genetic analysis of DNA using the polymerase chain reaction followed by analysis of length polymorphism restraktsionnyh fragments. Condition of carbohydrate metabolism was evaluated by the level of fasting blood glucose and standard glucose tolerance test. Diagnosis of insulin resistance was performed according to the criteria proposed by the European Group for the Study of insulin resistance (EGIR).
Skill test for the C282Y mutation carriage and H63D in the HFE gene in 65 patients with non-alcoholic fatty liver disease. Disturbances in the metabolism of porphyrins were recorded in 43 (66.2%) patients. H63D and C282Y mutations were found in 18 (27.7%) patients, of whom 13 (72.2%) people with different options dismetabolism porphyrins and signs of insulin resistance. In 47 (72.3%) patients without mutations studied porphyrin metabolism disorders were detected in 30 (63.8 %), of which insulin resistance is registered only in 16 (34.0 %).
Detection of mutations C282Y and H63D in the HFE gene in combination with disorders of porphyrin metabolism on the background of insulin resistance is likely to allow such patients considered as candidates for inclusion in the higher risk of formation of diabetes.