Selected novel aspects in pathogenesis of lupus erythematosus – interdisciplinary view

Lupus erythematosus is an autoimmune disease characterized by complex immune disturbances concerning humoral and cell-mediated immune responses. Despite intensive research, many pathological processes regarding this disorder remain unexplained. During interdisciplinary investigations on the etiology of lupus and its complications special interest has recently been referred to heat-shock proteins, antibodies directed against such proteins and galectin-3. These issues are extensively studied not only by dermatologists and rheumatologists, but also by cardiologists (in terms of cardiovascular complications) and nephrologists (in terms of lupus nephritis). This study presents the current state of dermatological, nephrological and cardiological knowledge on this topic

The EVER genes – the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients

In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identified only in EV. It was also determined that the EVER genes belong to a novel gene family, the transmembrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis. These observations have given new insights into EV pathogenesis

The role of analysis of EVER2 haplotypes in actinic keratosis

Introduction . Polymorphisms of EVER genes are related to increased risk of actinic keratosis (AK), squamous skin cancers (SCC) and cervical cancer. Objective . The aim of this study was to analyze the haplotypes of the EVER 2 gene in 65 subjects with ≥ 5 actinic keratoses and in 274 controls. The correlations between EVER 2 haplotype and selected clinical parameters in patients with actinic keratosis were also evaluated. Material and methods . The analysis involved polymorphisms –917A>T (rs7208422), –988-4G>T (rs62079073) and –1107G>A (rs12452890), which obtained statistically significant results in previous published studies of patients with actinic keratosis and squamous skin cancers. The full blood samples of patients and controls were genotyped using real-time polymerase chain reaction with reagents from Applied Biosystems. Results . In a group of patients with AK and the controls the most frequent haplotypes were AGG and TGA. Haplotype TG (–917A>T and –988-4G>T) containing the promoter T allele of 917A>T was more frequent in patients who had AK onset before the age of 70 years (0.6117 vs. 0.417; p = 0.029) and with more extensive skin lesions (0.6085 vs. 0.414; p = 0.029). Haplotype TA (–988-4G>T and –1107G>A), containing the protective G allele of –988-4G>T, was observed only in patients with AK. There was no presence of haplotype TA in patients with coexisting SCC (the result was near statistical significance, p = 0.059). Conclusions . The results of the study suggest the necessity of analysis of haplotypes in evaluation of predisposition to precancerous skin lesions and skin cancers