Population variability in some genes involving the haemostatic system: data on the general population of Corsica (France), Sardinia and Sicily (Italy)

Three different population samples from Corsica (France), Sardinia and Sicily (Italy) were studied using nine genetic markers. For the first time, allele distributions of FGA TaqI, FGB Bcl I, FGB Hind III, PAI-1 Hind III, PLAT TPA-25, GPIIIa Taq I, GPIIb I/D 9bp, FVII HVR4 and FVII -323 10 bp markers, which are thought to be associated with cardiovascular disease risk, were studied in the general population of the three islands. The frequencies of the markers analysed in the present work show some peculiarities: the locus FVII HVR4 is characterized by the presence of a rare allele (H5), found in Corsicans and in Sardinians; the locus FBG BcII shows a low frequency of the B1 allele and the absence of the B1B1 genotype. The frequencies of some alleles have a distribution that is in agreement with the low risk for cardiovascular diseases in south European countries. The results highlight a genetic differentiation between the three Mediterranean islands and the other European populations

Subletalni učinci 2,4-diklorofenoksi octene kiseline (2,4-D) na slatkovodnog uskoškarog raka (Astacus leptodactylus Eschscholtz, 1823)

2,4-D is a widely used phenoxy herbicide, potentially toxic to humans and biota. The objective of the present study was to reveal short term sublethal effects of 2,4-D on narrow-clawed freshwater crayfish (Astacus leptodactylus Eschscholtz, 1823), based on histology, total haemocyte counts, selected haemolymph parameters, and oxidative stress parameters. In the laboratory conditions crayfish specimens were exposed to 9 mg L-1 of 2,4-D for one week. Experiments were conducted under semi-static conditions in 20 L-capacity aquaria where 10 freshwater crayfish were stocked per aquarium. Exposure (experimental) and control groups were used and the experiments were repeated two times. No mortality and behavioural changes were recorded during the experiments. Total haemocyte counts decreased significantly, while haemolymph glucose levels increased (P<0.05), when compared to the control group. Haemolymph levels of calcium, chloride, sodium, potassium, magnesium, total protein, and lactate did not change. Exposure resulted with increased levels of malondialdehyde (MDA) only in hepatopancreas. However, results of gill FOX assay showed a significant decrease in oxidative stress parameters (P<0.05). MDA levels of gill and abdominal muscle tissues and FOX levels of hepatopancreas and abdominal muscle tissues did not change when compared to the control group. Significant histopathological alterations were observed both in hepatopancreas (multifocal deformations in tubule lumen) and gill tissue (melanisation of gill lamella). Exposure of crayfish even to a sublethal concentration of 2,4-D alters histopathology and lipid peroxidation due to stress. Biomarkers studied here seem to be useful for the assessment of adverse/toxic effects of pesticides on non-target, indicator aquatic organisms.2,4-D je fenoksi herbicid koji se upotrebljava diljem svijeta, a potencijalno je toksičan za ljude i biotu. Cilj ovoga istraživanja bio je ispitati kratkoročne subletalne učinke herbicida 2,4-D na slatkovodnog uskoškarog raka (Astacus leptodactylus Eschscholtz, 1823) proučavanjem histoloških promjena, ukupnog broja hemocita, odabranih hemolitičkih parametara i parametara oksidacijskoga stresa. Jedinke slatkovodnog raka izložene su u laboratorijskim uvjetima koncentraciji od 9 mg L-1 herbicida 2,4-D tijekom sedam dana. Eksperimenti su izvedeni u polustatičkim uvjetima u 20-litarskim akvarijima. U svakom akvariju držano je 10 jedinki rakova, podijeljenih u skupinu koja je bila izložena herbicidu i u kontrolnu skupinu, a eksperiment je ponovljen tri puta. Tijekom eksperimenata nisu zabilježene nikakve promjene u stopi smrtnosti ili u ponašanju životinja. Ukupan se broj hemocita značajno smanjio, a razine glukoze u hemolimfi povećale (P<0,05) u usporedbi s kontrolnom skupinom. Razine kalcija, klorida, kalija, magnezija, ukupnog proteina i laktata u hemolimfi nisu se promijenile. Izlaganje herbicidu povisilo je razine malondialdehida (MDA) u hepatopankreasu. Međutim, rezultati FOX-testa na škrgama pokazali su značajno smanjenje parametara oksidacijskoga stresa (P<0,05), za razliku od razina MDA izmjerenih FOX-testom u škrgama i abdominalnom mišićnom tkivu te u hepatopankreasu, koje se nisu promijenile. Uočene su značajne histopatološke promjene u tkivu hepatopankreasa (multifokalne deformacije tubularnog lumena) i škrga (melanizacija škržnih listića). Izlaganje rakova subletalnoj koncentraciji herbicida 2,4-D izazvalo je histopatološke promjene te potaknulo lipidnu peroksidaciju zbog stresa. Čini se da su biomarkeri koji su promatrani u ovom ispitivanju korisni za procjenu neželjenih učinaka pesticida na neciljne vodene indikatorske organizme

Influence of rootstocks on pistachio (Pistacia vera L.) water relations

Pistachio potted plants budded on three different rootstocks were submitted to water stress during 28 days with the aim of studying their water relations and physiological responses. Water stress resulted in an accented drop of stem water potential and leaf conductance. Nonetheless, pistachio plants showed a great capacity to contrast drought effects by the recourse to osmotic adjustment mechanisms. Regarding rootstocks, UCB-I results being the less adapted rootstock to conditions of water stress

Clinical phenotype and functional characterization of CASQ2 mutations associated with Catecholaminergic Polymorphic Ventricular Tachycardia

BACKGROUND: Four distinct mutations in the human cardiac calsequestrin gene (CASQ2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). The mechanisms leading to the clinical phenotype are still poorly understood because only 1 CASQ2 mutation has been characterized in vitro. METHODS AND RESULTS: We identified a homozygous 16-bp deletion at position 339 to 354 leading to a frame shift and a stop codon after 5aa (CASQ2(G112+5X)) in a child with stress-induced ventricular tachycardia and cardiac arrest. The same deletion was also identified in association with a novel point mutation (CASQ2(L167H)) in a highly symptomatic CPVT child who is the first CPVT patient carrier of compound heterozygous CASQ2 mutations. We characterized in vitro the properties of CASQ2 mutants: CASQ2(G112+5X) did not bind Ca2+, whereas CASQ2(L167H) had normal calcium-binding properties. When expressed in rat myocytes, both mutants decreased the sarcoplasmic reticulum Ca2+-storing capacity and reduced the amplitude of I(Ca)-induced Ca2+ transients and of spontaneous Ca2+ sparks in permeabilized myocytes. Exposure of myocytes to isoproterenol caused the development of delayed afterdepolarizations in CASQ2(G112+5X). CONCLUSIONS: CASQ2(L167H) and CASQ2(G112+5X) alter CASQ2 function in cardiac myocytes, which leads to reduction of active sarcoplasmic reticulum Ca2+ release and calcium content. In addition, CASQ2(G112+5X) displays altered calcium-binding properties and leads to delayed afterdepolarizations. We conclude that the 2 CASQ2 mutations identified in CPVT create distinct abnormalities that lead to abnormal intracellular calcium regulation, thus facilitating the development of tachyarrhythmias

Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa

We typed 1801 males from 55 locations for the Y-specific binary markers YAP! DYZ3, SRY10831 and the (CA)n microsatellites YCAII and DYS413. Phylogenetic relationships of chromosomes with the same binary haplotype were condensed in seven large one-step networks! which accounted for 95% of all chromosomes. Their coalescence ages were estimated based on microsatellite diversity. The three largest and oldest networks undergo sharp frequency changes in three areas. The more recent network; 3.1A clearly discriminates between Western and Eastern European populations. Pairwise Pst showed an overall increment with increasing geographic distance but with a slope greatly reduced when compared to previous reports. BI sectioning the entire data set according to geographic and linguistic criteria, we found higher Fst-on-distance slopes within Europe than in West Asia or across the tno continents

Deficit irrigation and emerging fruit crops as a strategy to save water in Mediterranean semiarid agrosystems

Water scarcity in Mediterranean climate areas will be progressively aggravated by climate change, population increase and urban, tourism and industrial activities. To protect water resources and their integrity for future use and to improve biodiversity, besides following advanced deficit irrigation strategies in fruit cultivation, attention could well be directed towards what are at present underused plant materials able to withstand deficit irrigation with minimum impact on yield and fruit quality. To this end, the state of the art as regards deficit irrigation strategies and the response of some very interesting emerging fruit crops [jujube (Zizyphus jujuba Mill.), loquat (Eriobotrya japonica Lindl.), pistachio (Pistacia vera L.) and pomegranate (Punica granatum L.)] are reviewed. The strengths and weaknesses of deficit irrigation strategies and the mechanisms developed by these emerging fruit crops in the face of water stress are discussed. The response of these crops to deficit irrigation, with special attention paid to the effect on yield but also on fruit quality and health-related chemical compounds, was analysed in order to assess their suitability for saving water in Mediterranean semiarid agrosystems and to analyze their potential role as alternatives to currently cultivated fruit crops with higher water requirements. Finally, the factors involved in establishing an identity brand (hydroSOS) to protect fruits obtained under specific DI conditions are discussed