Influence of visfatin’s gene variations on late diabetic complications

Visfatin (nicotinamide phosphoribosyltransferase) is an adipokine that performs many functions in the organism. It can be expressed in different tissues such as the brain, kidneys and visceral adipose tissue. Visfatin takes part in many molecular processes including apoptosis, inflammation, cell proliferation. It affects glucose metabolism and is involved in the pathogenesis of diabetes, insulin resistance, atherosclerosis and obesity. Moreover, studies suggest that visfatin also may be associated with the development of diabetic nephropathy and retinopathy. The goal of the study is the assessment of the influence of different visfatin’s gene variants on the occurrence of late diabetic complications.The study group consisted of 272 patients with diabetes – 139 men and 133 women from Southern Poland.Selected DNA fragments were amplificated and marked. Visfatin’s gene in rs4730153 was examined. The Real-Time PCR was conducted with fluorescence-labelled probes. The most common genotypes were heterozygote AG- 138 patients (51%) and homozygote GG- 89 patients (33%).In the study group, there were 92 diabetics with retinopathy, 26 with nephropathy, 88 with neuropathy and 103 with macroangiopathy. It has been assessed using the c2 test that there are no differences between the variability of different variants of visfatin’s gene in the distribution of genotypes. According to Hardy-Weinberg’s test, the variety of population is maintained

MC4R polymorphism in rs17782313 influences on insulin resistance

Introduction: There are many factors responsible for the development of metabolic syndrome – mainly associated with lifestyle, but also genetic ones. MC4R (melanocortin 4 receptor) genes variants have been associated with the risk of developing obesity, type 2 diabetes mellitus and coronary artery disease. Aim of the study: To investigate the association between MC4R rs17782313 polymorphism and concentrations of glucose, insulin, HOMA-IR and QUICKI values in the whole study group. Materials and methods: Study group consisted of 294 patients (136 men and 158 women). Collected venous blood samples were stored at -700C until the study group was completed. In the laboratory of Clinical Hospital 1 in Zabrze, the DNA materials were isolated, proper concentration of the DNA (15 ng/μL) were prepared and quality and quantity were checked by spectrophotometry. Allelic discrimination was performed with the use of fluorescent-labelled TaqMan Pre-designed SNP Genotyping Assay probes. Results: No statistically significant differences in concentrations of cholesterol, HDL, LDL, TG between genotypes in women and men were observed. In the whole group of patients, glucose and insulin levels did not differ significantly between TT, CT and CC carriers. Significant differences in values of HOMA-IR and QUICKI between TT, CT and CC carriers as well as between TT carriers and CT+CC carriers were found. CC+TT carriers have a significantly lower value of HOMA-IR and higher QUICKI value than TT carriers. Conclusions: MC4R polymorphism in rs17782313 may be associated with insulin resistance. Further studies are necessary to completely assess the association between investigated polymorphism, insulin resistance and risk of diabetes mellitus development

Podłoże genetyczne i diagnostyka nefropatii IgA

Nefropatia IgA należy do najczęściej występujących pierwotnych chorób kłębuszków nerkowych. W Europie stanowi do 30% wszystkich pierwotnych glomerulopatii. Chorobę Bergera cechuje różne tempo rozwoju; w niektórych przypadkach doprowadza ona do skrajnej niewydolności nerek. Nefropatia IgA ma podłoże wieloczynnikowe, pewną rolę w jej powstawaniu przypisuje się różnym genom. Obecnie do ustalenia rozpoznania konieczne jest wykonanie badania histopatologicznego bioptatu nerki. W niniejszym artykule omówiono podłoże genetyczne oraz diagnostykę nefropatii IgA

Acyl-CoA type 5 gene polymorphism and inappropriate body mass occurrence related to waist circumference and insulin resistance index among the population living in southern Poland

INTRODUCTION: Lipid metabolism disorders and the obesity connected with them are problems which occur increasingly more frequently in highly-developed countries. Acyl-CoA synthetase (ACSL) is an important enzyme in lipid metabolism taking part in the activation of fatty acids (FA). This makes determining the correlation between the gene polymorphism for ACSL and the development of obesity a relevant research issue. AIMS: The aim of this study was to examine the dependence of the Acyl-CoA synthetase gene polymorphism on the occurrence of inappropriate body weight and HOMA-IR indicator values. MATERIAL AND METHODS: A total of 506 patients were examined, whose ACSL5 rs2419621 polymorphism was determined using probes binding with a specific DNA matrix. RESULTS: The results of the Hardy-Weinberg equilibrium test showed that the genotype proportions within the population are maintained. Among the patients from the research sample, 177 patients with a proper body weight were identified along with 330 patients with inappropriate Body Mass Index (BMI) values. CONCLUSIONS: It was determined that there are no differences between the statistical variables in the distribution of acyl-CoA of isoform 5 synthetase gene polymorphism genotypes. Based on the results of the study, a correlation between the gene polymorphism for ACSL5 and the development of obesity cannot be determined.WSTĘP: Zaburzenia przemian lipidów i związana z nimi otyłość to problem coraz częściej dotykający ludzi w krajach wysoko rozwiniętych. Syntetaza acylo-CoA typu 5 (ACSL5) jest ważnym enzymem metabolizmu lipidów, biorącym udział w aktywacji kwasów tłuszczowych. Prawidłowe funkcjonowanie tego enzymu zapewnia substraty zarówno dla lipogenezy, jak i oksydacji kwasów tłuszczowych, stąd określenie związku między polimorfizmem genu dla ACSL a kształtowaniem otyłości stanowi istotny problem badawczy. CEL PRACY: Celem pracy było wykazanie zależności między nieprawidłową masą ciała oraz wartością wskaźnika HOMA-IR (homeostasis model assessment) a występowaniem polimorfizmu genu syntetazy acylo-CoA izoformy 5. MATERIAŁ I METODY: Przebadano łącznie 506 pacjentów, u których za pomocą sond specyficznie wiążących się z DNA matrycy oznaczono polimorfizm ACSL5 rs2419621. WYNIKI: Za pomocą testu statystycznego Hardy’ego-Weinberga wykazano, że proporcje genotypów w populacji są zachowane. Wśród pacjentów stanowiących próbę badawczą wyróżniono 177 osób o prawidłowej masie ciała oraz 330 osób z nieprawidłową wartością indeksu BMI. WNIOSKI: Wykazano brak zmiennych różnic statystycznych w rozkładzie genotypów polimorfizmu genu syntetazy acylo-CoA izoformy 5. Wyniki przeprowadzonego badania nie pozwalają wykazać zależności między polimorfizmem genu dla ACSL5 a kształtowaniem otyłości