Genetski deverzitet u okviru fragmenta gena myo15a, odgovornog za sluh u populaciji životinja familije canidae u uslovima farmskog i slobodnog uzgoja

The gene MYO15A is involved in the production of a protein included in the group of motor proteins known as myosins. Myosin XVA is located in the inner ear, the pituitary gland and other tissues, and has a substantial influence on the hearing process. Mutations in this gene cause amino acid substitutions in the conserved motor domain of the myosin chain, leading to shortening of the stereocilia in the hair cells, so that the function of myosin XVA is impaired. A research hypothesis was put forth that mutations in the gene responsible for the hearing process in animals of the Canidae family can cause hypoacusis, as well as substantial behavioural changes in dogs (ranging from timidity to aggressive behaviour). The study determined SNP polymorphism in a fragment of the gene MYO15A, which can cause hearing disorders or hypoacusis, in wild and farmed individuals of the Canidae family.Gen MYO15A je uključen u stvaranje proteina iz grupe motornih proteina - miozina. Miozin XVA je lociran u unutrašnjem uhu, hipofi zi i drugim tkivima, i značajno utiče na slušni proces. Mutacije u ovom genu izazivaju supstitucije aminokiselina u konzervisanom motornom domenu lanca miozina, što dovodi do skraćenja stereocilija slušnih ćelija, a kao posledica dolazi do poremećaja funkcije XVA miozina. Postavljena je istraživačka hipoteza koja je pretpostavljala da mutacije u genu koji je odgovoran za slušni proces kod životinja familije Canidae mogu da izazovu hipoakustiku kao i značajne promene u ponašanju pasa, od povučenosti i straha do agresivnosti. Ispitivanjem je determinisan SNP polimorfi zam u fragmentu gena MYO15A koji može da dovede do poremećaja sluha kako kod divljih tako i kod farmski uzgajanih životinja familije Canidae

Single Nucleotide Polymorphisms in Selected Genes in Inflammatory Bowel Disease

Introduction. Inflammatory bowel disease (IBD) is a complicated, multifunctional disorder characterized by chronic, recurring inflammation of the digestive tract. The two main types of IBD are ulcerative colitis (UC) and Crohn’s disease (CD). The aim of the study was to determine single nucleotide polymorphism in fragments of the genes CARD15/NOD2 and DLG5 in patients from the Lublin Voivodeship. Patients and Methods. The study was carried out in Lublin (Poland) in 2016. 27 individuals participated in the research. The research group comprised 9 patients with a diagnosis of Crohn’s disease and 9 with ulcerative colitis, aged 20 to 48, and 9 healthy volunteers. Results. No SNPs were confirmed for the CARD15/NOD2 gene fragment, but a substitution (T>C) was found in the DLG5 gene in a Crohn’s disease patient. Conclusion. Absence of extraintestinal symptoms in patients with Crohn’s disease may be associated with the absence of CARD15/NOD2 SNPs. The study suggests that SNPs (T>C substitution) affect the function of the DLG5 protein and thus play a role in the development of IBD, in particular Crohn’s disease. The analysis presented is a pilot study due to the small number of samples

Analysis of Age-Related Global DNA Methylation in Chicken

International audienceDNA methylation is an epigenetic modification that plays an important role in the normal development and function of organisms. The level of DNA methylation is species-, tissue-, and organelle-specific, and the methylation pattern is determined during embryogenesis. DNA methylation has also been correlated with age. The aim of this study was to determine the global DNA methylation levels and their correlation with age in the chicken, using a Polish autosexing chicken breed, Polbar. A quantitative technique based on an immunoenzymatic assay was used for global DNA methylation analysis. The results show increased global DNA methylation levels with older Polbar embryos. Global DNA methylation levels decrease with the age of hens in the postembryonic stage. This study expands the current knowledge of the Polbar epigenome and the general knowledge of the function of epigenetic mechanisms in birds

SNP Genetic Diversity Within a Fragment of the Gene Myo15a Responsible for the Hearing Process in a Population of Farmed and Free-Living Animals of the Canidae Family/SNP Genetski Deverzitet U Okviru Fragmenta Gena Myo15a, Odgovornog Za Sluh U Populaciji Životinja Familije Canidae U Uslovima Farmskog I Slobodnog Uzgoja

The gene MYO15A is involved in the production of a protein included in the group of motor proteins known as myosins. Myosin XVA is located in the inner ear, the pituitary gland and other tissues, and has a substantial influence on the hearing process. Mutations in this gene cause amino acid substitutions in the conserved motor domain of the myosin chain, leading to shortening of the stereocilia in the hair cells, so that the function of myosin XVA is impaired. A research hypothesis was put forth that mutations in the gene responsible for the hearing process in animals of the Canidae family can cause hypoacusis, as well as substantial behavioural changes in dogs (ranging from timidity to aggressive behaviour). The study determined SNP polymorphism in a fragment of the gene MYO15A, which can cause hearing disorders or hypoacusis, in wild and farmed individuals of the Canidae family.Gen MYO15A je uključen u stvaranje proteina iz grupe motornih proteina - miozina. Miozin XVA je lociran u unutrašnjem uhu, hipofi zi i drugim tkivima, i značajno utiče na slušni proces. Mutacije u ovom genu izazivaju supstitucije aminokiselina u konzervisanom motornom domenu lanca miozina, što dovodi do skraćenja stereocilija slušnih ćelija, a kao posledica dolazi do poremećaja funkcije XVA miozina. Postavljena je istraživačka hipoteza koja je pretpostavljala da mutacije u genu koji je odgovoran za slušni proces kod životinja familije Canidae mogu da izazovu hipoakustiku kao i značajne promene u ponašanju pasa, od povučenosti i straha do agresivnosti. Ispitivanjem je determinisan SNP polimorfi zam u fragmentu gena MYO15A koji može da dovede do poremećaja sluha kako kod divljih tako i kod farmski uzgajanih životinja familije Canidae

Oxidative Stress and Effect of Treatment on the Oxidation Product Decomposition Processes in IBD

Oxidative stress plays an important role in IBD because chronic intestinal inflammation is associated with the overproduction of reactive oxygen species (ROS) leading to oxidative stress, which has been implicated in IBD. Many lines of evidence suggest that IBD is associated with an imbalance between ROS and antioxidant activity which generates oxidative stress as the result of either ROS overproduction or a decrease in antioxidant activity. Our study was to evaluate the influence of oxidative stress and antioxidants on the course of the disease and treatment of IBD patients. Our results show that an increase of LOOH levels positively correlates with an increase in MDA levels; therefore, MDA may be a marker indicating lipid peroxidation. Also, being the decomposition product of oxidation processes, MDA may be applied as a useful biomarker for identifying the effect of endogenous oxidative stress in Crohn’s disease patients. The anti-inflammatory efficacy of AZA drugs may be the result of a reduction of the amount of lipid peroxides in the intestinal mucosa cells in CD patients and facilitate mucosal healing