What is the risk of neoplasma development in patients with type 2 diabetes what’s new they published to this subject at 2015

Cukrzyca to plaga XXI wieku. W Polsce obecnie choruje na nią około 3,05 mln osób, a w 2029 roku liczba tych chorych zwiększy się do 3,4 mln. Wykazano, że ryzyko rozwoju nowotworów u chorych na cukrzycę jest istotnie wyższe niż u chorych bez cukrzycy. W niniejszym opracowaniu przedstawiono nowe wyniki dotyczące ryzyka rozwoju i leczenia nowotworów u chorych na cukrzycę.Diabetes is a plague of the 21st century. In Poland at present ~ 3,05 mln persons is having diabetes, and in 2029 the number of these sick persons will rise up to 3.4 mln. It has been shown that the risk of cancer in diabetic patients is significantly higher than in patients without diabetes. In this paper we present new results concerning the risk of development and treatment of cancer in diabetic patients

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

miRNA w cukrzycy typu 2

Cukrzyca to grupa chorób metabolicznych charakteryzująca się hiperglikemią, czyli podwyższonym stężeniem cukru we krwi, który wynika z defektu produkcji lub działania insuliny wydzielanej przez komórki b trzustki. Najczęstszą postacią cukrzycy jest cukrzyca typu 2, przejawiająca się zmniejszoną wrażliwością tkanek na insulinę. Na przestrzeni lat pogłębiono wiedzę na temat etiologii cukrzycy zarówno typu 1, jak i 2, dzięki czemu możliwe jest wdrożenie nowych technik leczenia oraz profilaktyki choroby. Niestety wciąż nie udało się wyodrębnić jednogenowego czynnika warunkującego powstanie tej choroby, więc uwaga naukowców coraz częściej skupia się na regulatorach ekspresji różnych białek metabolicznych, np. miRNA, które są jednym z ważnych czynników regulatorowych ekspresji. Pierwsze doniesienia o roli miRNA w metabolizmie organizmów zwierzęcych pochodzą z obserwacji mutantów miR-14 u muszki owocowej (Drosophila melanogaster). miRNA to jednoniciowe cząsteczki RNA o długości około 19–150 nukleotydów. Jedna cząsteczka miRNA może pobudzać ekspresję kilku genów, hamować lub też jedne pobudzać, a inne hamować. MikroRNA regulują procesy sekrecji insuliny, różnicowanie się komórek b wysp trzustkowych, dodatkowo wpływają na metabolizm glukozy i lipidów. Wszystkie te zagadnienia są potencjalnymi tematami dalszych badań. Rozwój wiedzy na temat miRNA i jej udziału w procesach chorobowych jest celem do obmyślenia strategii terapeutycznej, a tym samym wykorzystania w produkcji leków. Większość badań jest obecnie w początkowej fazie, jednak już wstępne wyniki są bardzo obiecujące

miRNA in type 2 diabetes

Diabetes mellitus is a group of metabolic diseases characterized by hyperglycemia, i.e. elevated blood sugar levels, which stems from a defect in production or action of insulin secreted by pancreatic beta cells. Type 2 diabetes, which involves reduced sensitivity of tissues to insulin, is the most common form of diabetes. Over the years knowledge concerning the etiology of both type 1 and type 2 diabetes was extended, which enabled implementation of new methods of treatment and prevention. Unfortunately, a monogenic factor conditioning the emergence of this disease still has not been isolated, hence scientists more often focus on regulators of expression of various metabolic proteins, e.g. miRNA, which are one of the more important factors regulating expression. First reports concerning the role of miRNA in metabolism in animal organisms come from observations of miR-14 mutants in fruit flies (Drosophila melanogaster). miRNA are single-stranded RNA molecules with a length of approx. 19–150 nucleotides. A single miRNA molecule can excite expression of several genes, inhibit it, or excite some and inhibit others. MicroRNA regulates the process of insulin secretion, cellular differentiation of beta cells in pancreatic islets and additionally influence glucose and lipid metabolism. All these issues are potential subjects of further research. Expansion of knowledge concerning microRNA and its role in disease processes is a target for devising new therapeutic strategy, and therefore utilization in production of drugs. Most research is currently in its initial phase, but even preliminary results are highly promising

Association between Selected Polymorphisms rs12086634, rs846910, rs4844880, rs3753519 of 11β-Hydroxysteroid Dehydrogenase Type 1 (HSD11B1) and the Presence of Insulin Resistance in the Polish Population of People Living in Upper Silesia

Background: Many factors influence the development of insulin resistance, among other genetic factors. Cortisol is one of the factors that has a significant impact on the development of insulin resistance. The proteins that have a substantial effect on blood cortisol levels include 11β-hydroxysteroid dehydrogenase type 1. HSD11B1 is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. Gene encoding HSD11B1 is located on 1q32.2. This study was designed to assess the association between four polymorphic sides in HSD11B1 (rs12086634, rs846910, rs4844880, rs3753519) between subjects with and without insulin resistance in the Polish population of people living in Upper Silesia. Methods: The study included a total of 507 consecutive patients, 374 (73.77%) with and 133 (26.23%) without insulin resistance. Results: The results show that there were no statistically significant differences in the distribution of genotypes and alleles of the examined polymorphisms of the 11β-hydroxysteroid dehydrogenase type 1 gene between subjects with and without insulin resistance (determined using the HOMA-IR, insulin resistance index) and that rs846910 and rs1208663 polymorphisms of the 11β-hydroxysteroid dehydrogenase type 1 gene in the examined subjects have a significant effect on the magnitude of the HOMA-IR insulin resistance index. Conclusions: The study results suggested that genetic variation of rs846910 and rs1208663 polymorphism of the HSD11B1 gene is related to the susceptibility to insulin resistance. Our results provide a basis to begin basic research on the role of the HSD11B1 gene in the pathogenesis of insulin resistance

Influence of the FTO polymorphism rs17817449 on the risk of obesity, type 2 diabetes, and cardiovascular diseases in Upper Silesian population — a preliminary, cross-sectional study

Introduction: Obesity is considered to be one of the most prevalent health problems which lead to diabetesand cardiovascular diseases thus increasing mortality rate and decreasing life expectancy, particularly inwestern countries. The variants within the FTO gene were identified to be associated with adiposity anddiabetes in genome-wide association studies (GWAS).Aim of the study: To investigate the association between FTO rs17817449 polymorphism and risk ofobesity, type 2 diabetes, lipid disorders, and cardiovascular diseases: arterial hypertension and coronaryartery disease (CAD).Material and methods: Study group consisted of 295 patients (159 women and 136 men). Collected venousblood samples were stored at minus 70 C until the study group was completed. In the laboratory of theDepartment and Clinic of Internal Medicine, Diabetology and Nephrology, Medical University of Silesia inZabrze the DNA material was isolated, proper concentration of the DNA (15 ng/μL) were prepared andquality and quantity were checked by spectrophotometry. Allelic discrimination was performed in RocheLightcycler96 thermocycler with the use of fluorescent-labeled TaqMan Pre-designed SNP GenotypingAssay probes.Results: BMI, body fat percentage, and waist circumference did not differ by rs17817449 genotype. Therewere no significant differences in genotypes distribution between patients with obesity and normal bodyweight. We found a significant association of GT, but not GG genotype with lower risk of arterial hypertension(OR, 0.55; 95% CI, 0.325–0.940; p = 0.003) and coronary artery disease (OR, 0.3; 95% CI, 0.145–0.620);p = 0.001). The frequencies of the FTO genotypes did not differ significantly between individuals withand without diabetes. Parameters of lipid profile (total cholesterol, HDL, LDL, TAG) and carbohydratemetabolism (fasting glucose, fasting insulin, HOMA-IR, QUICKI) did not differ by s17817449 genotype.Conclusion: The association between the FTO polymorphism in rs17817449 and increased risk of obesityand type 2 diabetes mellitus in the Upper Silesian population was not confirmed in this study. The rs17817449variant of FTO gene may be related to decreased risk of arterial hypertension and coronary artery disease.Further studies in a larger cohort are required to confirm the association between FTO polymorphism inrs17817449 or/and in other FTO gene polymorphisms and diabetes and cardiovascular diseases

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

The role of rs1137100 LEPR in pathogenesis of overweight and obesity among study population

INTRODUCTION: Overweight and obesity have become serious public health problems. They are associated with leptin and the leptin receptor (LEPR). LEPR is one of the gp130 family proteins, which plays a great role in the human body. A number of studies have evaluated many LEPR polymorphisms. MATERIAL AND METHODS: The study included a group of 510 patients residing in the Upper Silesian Agglomeration (divided into healthy, overweight and obesity groups). The LEPR gene polymorphism was investigated using the Applied Biosystems 7300 Real-Time PCR System. The analysis was carried out with fluorescent-labeled probes by means of ready-to-use assay kits for single nucleotide polymorphism detection. RESULTS: There were no statistically significant differences in the distribution of genotypes in the healthy and overweight and obese subjects either in the whole group or in the male and female groups (p > 0.05). The incidence of allele A was 76.73% and allele G 23.27%. CONCLUSIONS: There were no significant differences in the distribution of the rs1137100 LEPR polymorphism for the development of overweight and obesity pathogenesis.WSTĘP: Nadwaga i otyłość stały się w obecnych czasach poważnym problemem zdrowia publicznego. Patogenezę tych schorzeń można wiązać m.in. z hormonem tkankowym – leptyną, a także jej receptorem kodowanym przez gen LEPR. Receptor leptyny, należący do rodziny białek gp130, odgrywa ogromną rolę w ludzkim organizmie m.in. w patogenezie nadwagi i otyłości. MATERIAŁ I METODY: Badaniem objęto 510 osób. Grupę badaną podzielono na trzy grupy: kontrolną – zdrowych, z nadwagą oraz otyłością. Polimorfizm genu dla receptora leptyny K109R (rs1137100) zbadano w reakcji łańcuchowej polimerazy za pomocą aparatu 7300 Real Time PCR System (Applied Biosystems). Do genotypowania wykorzystano komplementarne do badanych alleli, fluorescencyjnie znakowane sondy TaqMan Predesigned SNP Genotyping Assay (Applied Biosystems). WYNIKI: Nie wykazano znamiennych statystycznie różnic w rozkładzie genotypów między pacjentami zdrowymi a badanymi z nadwagą i z otyłością zarówno w całej grupie, jak i w grupach kobiet i mężczyzn (p > 0,05). Częstość występowania allelu A wynosiła 76,73%, allelu G 23,27%. WNIOSKI: Brak znamiennych różnic w rozkładzie polimorfizmu rs1137100 LEPR w patogenezie nadwagi i otyłości