Although autoimmune diseases are relatively common, mechanisms that lead to their development remain largely unknown. Nuclear factor-κB (NF-κB), as a key transcription factor involved in the regulation of immune responses and apoptosis, appears to be a good candidate for studies on the pathogenesis of autoimmunity. This review presents how perturbations of the NF-κB signaling pathway may contribute to self-tolerance failure, initiation of autoimmune inflammatory response as well as its persistent maintenance and therefore to the development of common autoimmune diseases including rheumatoid arthritis, multiple sclerosis, type 1 diabetes mellitus, thyroid autoimmune diseases, systemic lupus erythematosus as well as inflammatory bowel diseases and psoriasis. A special emphasis is put on the genetic variations in the NF-κB related genes and their possible association with susceptibility to autoimmune diseases, as well as on the therapeutic potential of the NF-κB targeted strategies in the treatment of autoimmunity
Introduction. Numerous studies have focused on the association between I/D ACE and physical fi tness; however, this association in professional hockey players has never been recognized. Aim of the Study. The study examined the distribution of Alu insertion (I)/deletion (D) angiotensin converting enzyme (ACE) genotypes in elite male professional fi eld hockey players. Material and Methods. The effect of Alu insertion (I)/deletion (D) angiotensin converting enzyme (ACE) genotypes on motor skills and maximal oxygen uptake (VO₂max) in 47 elite male fi eld hockey players was studied. Genotyping for ACE I/D was performed using a polymerase chain reaction on DNA from leucocytes. The studied motor skills such as speed – 20 m run, power – vertical jump, recovery – step-test, speed endurance (15 x 20 m) shuttle run, were established using functional tests. The VO₂max was measured during progressive exercise test till exhaustion. Results. The authors do not confi rm some literature data that D allele favours endurance ability. We did not detect signifi cant genotype effects of ACE on the analyzed traits; how-ever a tendency for decreased performance of individuals with the DD genotype was noted for vertical jump, power peak and power. Conclusions. Analysis of the genetic profi le of ACE I/D may provide supplemetary information on a player’s predispositions to exercise with specifi c energy requirements.
Fusarium culmorum is an etiologic agent of barley foot rot. The identification and variability evaluation of F. culmorum isolates, originating from roots and stem bases of spring barley, was carried out using molecular methods. Species-specific SCAR primers were successfully applied to identify F. culmorum isolates from northern and south-eastern Poland. To determine DNA polymorphism on intraspecies level RAPD technique was used. Twenty three RAPD markers revealed DNA polymorphism suitable to assess genetic variation among isolates examined. Cluster analysis of RAPD data identified a few groups of isolates. In some cases grouping of isolates was correlated with their geographic origin.
Rheumatoid arthritis (RA) is a chronic autoimmune disease and can lead to deformities and severe disabilities, due to irreversible damage of tendons, joints, and bones. A previous study indicated that a DNA repair system was involved in the development of RA. In this study, we investigated the association of four N-methylpurine-DNA glycosylase (MPG) gene polymorphisms (rs3176364, rs710079, rs2858056, and rs2541632) with susceptibility to RA in 384 Taiwanese individuals (192 RA patients and 192 control subjects). Our data show a statistically significant difference in genotype frequency distributions at rs710079 and rs2858056 SNPs between RA patients and control groups (P = 0.040 and 0.029, respectively). Our data also indicated that individuals with the GG genotype at rs2858056 SNP may have a higher risk of developing RA. In addition, compared with the haplotype frequencies between case and control groups, individuals with the GCGC haplotype appeared to be at a greater risk of RA progression (P = 0.003, OR = 1.75; 95% CI = 1.20-1.55). Our results suggest that rs710079 and rs2858056 polymorphisms and the GCGC haplotype in the MPG gene are associated with the risk of RA progression, and thus may be used as molecular markers of RA if they are confirmed by further research.
Nitric oxide (NO) is synthesised in the vascular endothelium by nitric oxide synthase (NOS3) and is an important factor in the regulation of blood pressure. Impaired synthesis of NO due to mutations in the NOS3 gene is associated with hypertension. To date several allelic variants of the NOS3 gene have been identified and their possible linkage with hypertension investigated. We studied the distribution of genotypes and frequency of alleles of the G11T polymorphism in intron 23 of the NOS3 gene in patients with hypertension and in a control group of healthy individuals. The polymorphism was determined by PCR-RFLP analysis. The distribution of genotypes in the patients with hypertension and in the healthy individuals did not differ significantly from the values predicted from Hardy-Weinberg equilibrium for the general population. No major differences in the distribution of the G11T polymorphism in the patients and healthy individuals were found (P > 0.05).
The genetic diversity of Neogobius melanostomus populations was investigated by means of allozyme electrophoresis. 28 loci coding for 16 enzyme systems were examined. Samples originated from the Gulf of Gdańsk (Baltic Sea, newly founded population) and the north part of the Black Sea, off the Crimean Peninsula (centre of range). Despite their considerable geographical isolation, the genetic distance was not high (DNₑᵢ = 0.0353), also the populations had shown great similarity at the polymorphism level and the mean number of alleles per locus. High level of polymorphism and no signs of the founder effect in the Baltic Sea population could indicate that colonisation was very intensive.
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