Purpose of research. Study of the frequency of detection of mutations in the α1 -antitrypsin SERPINA1 gene in non-alcoholic fatty liver disease (NAFLD) in comparison with individuals from the General population and assessment of features of metabolic disorders.Materials and methods. 439 people were examined, including 114 patients with NAFLD and 325 individuals in the General population. All subjects were subjected to molecular genetic testing. The frequency of mutations of the Glu342Lys (PIZ) and Glu264Val (PIS) alleles of the serpina1 α1-antitrypsin gene was evaluated. All patients with NAFLD underwent a comprehensive examination, during which standard indicators of liver function, lipid, porphyrin metabolism and cytokine spectrum were determined.Results. Mutations of the α1 -antitrypsin SERPINA1 gene are signifi cantly more common in patients with NAFLD compared to individuals in the General population. Violations of lipid, porphyrin metabolism and cytokine spectrum parameters in the presence of mutations of the α1-antitrypsin SERPINA1 gene or their absence were registered with the same frequency. Against the background of mutations of the α1 -antitrypsin SERPINA1 gene, deviations from the normal values of lipid, porphyrin metabolism and cytokine spectrum were more signifi cant. Violations of porphyrin metabolism and cytokine spectrum were found in the majority of patients (in 69.4% and 77.1% of cases, respectively).
Conclusion.Conducting molecular genetic studies in NAFLD allows you to clarify the degree of metabolic disorders and assess the prognosis of the disease.
Aim. Investigation of the influence of canceroembryonic antigen (CEA) on the immune cells in patients with breast tumors.Materials and methods. Peripheral blood of 67 patients with invasive ductal carcinoma (n = 44), fibroadenoma (n = 12) and breast pre-cancer (n = 11). In the supernatants of the blood cells cytokine production induced by CEA was determined by ELISA.Results. It was found that CEA stimulated production of IL-6, IL-8, IL-10, IL-1β, IL-1Ra, TNFα, G-CSF, GM-CSF and the protein MCP-1 by blood immune cells in patients with fibroadenoma compared with groups of patients with invasive ductal carcinoma and precancerous lesions. Stimulation index of CEA on cytokine production by immunocompetent cells in patients in these groups was lower than in groups of patients with fibroadenoma due to initially high levels of spontaneous cytokine production.Results. In patients with fibroadenoma CEA was found to stimulate the production of IL-6, IL-8, IL-10, IL-1β, IL-1Ra, TNFa, G-CSF, GM-CSF and MCP-1 compared with groups of patients with invasive ductal carcinoma and precancerous conditions. Indexes of the influence of CEA on cytokine production by immunocompetent cells in these groups was lower than in the fibroadenoma due to initially high spontaneous production of cytokines.Conclusion. Evident spontaneous cytokine-producing function of immunocompetent blood cells was revealed in patients with invasive ductal carcinoma and precancerous conditions compared to patients with fibroadenoma. The differences between the indices of CEA influence on cytokine production in patients with malignant, benign and precancerous conditions can serve as a basis for the development of methods of differential diagnosis of breast tumors.
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