Statin-associated myopathy (SAM) represents a broad spectrum of disorders from insignificant myalgia to fatal rhabdomyolysis. Its frequency ranges from 1-5 % in clinical trials to 15-20 % in everyday clinical practice. To a large extent, these variations can be explained by the definition used. Thus, we propose a scoring system to classify statin-induced myopathy according to clinical and biochemical criteria as 1) possible, 2) probable or 3) definite. The etiology of this disorder remains poorly understood. Most probably, an underlying genetic cause is necessary for overt SAM to develop. Variants in a few gene groups that encode proteins involved in: i) statin metabolism and distribution (e.g. membrane transporters and enzymes; OATP1B1, ABCA1, MRP, CYP3A4), ii) coenzyme Q10 production (e.g. COQ10A and B), iii) energy metabolism of muscle tissue (e.g. PYGM, GAA, CPT2) and several others have been proposed as candidates which can predispose to SAM. Pharmacological properties of individual statin molecules (e.g. lipophilicity, excretion pathways) and patients´ characteristics influence the likelihood of SAM development. This review summarizes current data as well as our own results., M. Vrablik, L. Zlatohlavek, T. Stulc, V. Adamkova, M. Prusikova, L. Schwarzova, J. A. Hubacek, R. Ceska., and Obsahuje bibliografii
The association of transcription factor 7-like 2 (TCF7L2) gene variants with the pathogenesis of T2D, gestational diabetes and polycystic ovary syndrome (PCOS) was examined. The study involved 1460 individuals: 347 T2D patients (D); 261 gestational diabetics (G); 147 offspring of T2D (O); 329 women with PCOS, and 376 controls (C). The SNPs: rs7901695; rs7903146; rs12255372 in the TCF7L2 gene were genotyped. Anthropometric and biochemical parameters, oGTT derived indices were assessed. In addition, free fatty acids (FFAs) were evaluated in 183 non-diabetic women. The CTT haplotype showed the strongest association with T2D with OR 1.57, p=0.0003. The frequency of the CTT/CTT haplotype was decreasing in following order: D 10.6, O 9.5, G 6.1, C 5.3 and PCOS 4.9 [%]. Among CTT carriers, significantly decreased levels of oGTT-stimulated insulin and C-peptide as well as proportions of fasting PUFAs were observed. The carriership of CTG/TCG was associated with gestational diabetes, OR 2.59, p=0.036. The association of TCF7L2 haplotypes with T2D and gestational diabetes but not with PCOS was confirmed. Novel association of TCF7L2 with FFAs composition was found., J. Včelák ... [et al.]., and Obsahuje seznam literatury
To understand the pathogenesis of hypercholesterolemia in Prague hereditary hypercholesterolemic (PHHC) rat, we analyzed the response of hepatic transcriptome to dietary cholesterol in PHHC and control Wistar rats. Male PHHC and Wistar rats were fed chow (C), 5 % fat (palm kernel oil) (CF) or 1 % cholesterol + 5 % fat (CHOL) diet for three weeks. Hepatic transcriptome was analyzed using Affymetrix GeneChip arrays. No differences were found in the effect of both control diets (C and CF) on lipid metabolism and gene expression of 6500 genes. Therefore, these data were pooled for further analysis. Dietary cholesterol induced accumulation of cholesterol and triacylglycerols in the liver in both strains and hypercholesterolemia in PHHC rats. However, there were no differences in response of hepatic transcriptome to CHOL diet. On the other hand, several genes were found to be differently expressed between both strains independently of the diet. Two of those genes, Apof and Aldh1a7, were studied in more detail, and their role in pathogenesis of hypercholesterolemia in PHHC rats could not been corroborated. In conclusion, the hypercholesterolemia in PHHC rats is due to physiological response of hepatic transcriptome to dietary cholesterol in different genetic background., M. Vlachová, M. Heczková, M. Jirsa, R. Poledne, J. Kovář., and Obsahuje bibliografii
Přes obrovský pokrok v molekulárních fylogenetických metodách a množství v nedávné době objevených fosilních taxonů nemáme o fylogenezi a evoluci mravenců (čeleď Formicidae) mnoho ověřených faktů. V současnosti se rozlišuje 16 žijících a tři fosilní podčeledi. Podčeleď Leptanillinae je považována za bazální, zatímco skupina Apoidea (včely a kutilky) se ukazuje jako sesterská k čeledi mravenců., In contrast to the huge progress of molecular phylogenetic methods and many recently discovered fossil taxa, the phylogeny and evolution of ants (Formicidae) remains poorly understood. Today 16 extant and three fossil ant subfamilies are known. The subfamily Leptanillinae is considered as basal, while Apoidea seems to be a sister family to the ants., and Pavel Pech.
The genus Gobio in Italy was represented by the endemic species G. benacensis. The original distribution of this species was the Padano-Venetian district, but since a long time it was introduced in central Italy. Introductions of alien species to Italy during the last 10 years brought the sudden introduction of the Danubian G. gobio. Genetic and morphological analyses revealed the extensive presence of G. gobio, which rapidly colonised several rivers in Italy causing the progressive decline of G. benacensis, which now should be considered as an endangered species. Among examined populations those found in the Tagliamento River and transplanted in the Ombrone River represent genetic reservoirs of this species which will probably disappear in northern Italy.
Když jsme vás v minulém čísle Akademického bulletinu provedli nově zrekonstruovanými prostorami brněnského Mendeliana, zmínili jsme jeho počátky jen zběžně. Nyní si tedy připomeňme, že mohlo vzniknout teprve v 60. letech minulého století po období lysenkismu a mičurinské biologie, kdy byla genetika v tehdejším východním bloku považována za „buržoazní pavědu“, a podle toho patří k obětem komunistického režimu i nestor československé genetiky doc. Jaroslav Kříženecký. Právě on stál jako vůdčí osobnost u budování genetického oddělení Gregora J. Mendela v Moravském muzeu. and Marina Hužvárová.