Prevalence of common <Emphasis Type="Italic">MEFV</Emphasis> mutations and carrier frequencies in a large cohort of Iranian populations

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria). Confirmatory dideoxy sequencing of all MEFV gene exons was performed for 39 patients. Fifty-seven (27.4%) healthy individual carried mutant MEFV alleles. Three hundred and ninety-one (52.6%) FMF patients were found positive for either one (172/743; 23.1%), two or three MEFV mutations. Using dideoxy sequencing, three novel variants, A66P, R202W and H300Q, could be identified. Our analysis revealed an allele frequency and carrier rate of 15.6 and 27.4%, respectively, among healthy Iranians. Still moderate compared to neighbouring Armenia, but higher than in Turkey or Iraq, these data suggest that FMF is remarkably common among Iranian populations. E148Q was most frequent in the group of healthy individuals, whereas M694V was the most common mutation among FMF patients, thereby corroborating previous studies on MEFV mutational spectra in the Middle East. Accordingly, MEFV mutations are frequent in healthy Iranian individuals across different ethnic groups. Based on this finding, the awareness for FMF and the implementation of augmented carrier screening programmes considering the multiethnic nature of the Iranian population should be promoted.     

IL-1 MODIFIES SYSTEM A TRANSPORT ACTIVITY IN HUMAN RHEUMATOID SYNOVIAL CELLS

Given the importance of interleukin-1 in both rheumatic diseases and the modulation of cell metabolic activities, we studied the action of this cytokine on the neutral amino acid transport A system on rheumatoid synovial cells. In these cells IL-1 (1ng/ml) induced amino transport stimulation from 5min to 5h. This effect was obtained only after a starvation period. No concentration-related effect was found for IL-1-stimulated MeAIB uptake, and the IL-1-mediated MeAIB uptake stimulation is independent of protein synthesis. Neosynthesis or post-translational maturation of protein transport is a prerequisite for obtaining this effect. In conclusion, rheumatoid synovial cells exhibit a higher sensitivity for IL-1 than osteoarthritic ones, probably related to their intense metabolic activity.     

Water Deficit in Pea Root Tips: Effects on the Cell Cycle and on the Production of Dehydrin-like Proteins

Dehydrin-like proteins have been detected in nuclei and cytoplasmof meristematic root tip cells from pea seedlings subjectedto slow dehydration at 90% relative humidity for 48 h or more.Evidence was gained from Western blotting and immunocytochemicalexperiments using an antibody raised against the conserved domainof dehydrin proteins. Flow cytometer analysis has shown thatcycling cells of root tip meristems from dehydrated seedlingsare mostly arrested in G2 phase. Other stress treatments thoughtto involve water depletion (osmotic stress, cold treatment)or to modulate cell response to water deficit (abscisic acid)gave less clear-cut results with all treatments lowering theproportion of cells entering the S phase, but without a definiteand persistent arrest in any preferential phase of the cycle.Possible interrelationships between G2 arrest and dehydrin productionare discussed. Cell cycle; dehydrins; flow cytometry; nuclei; pea; Pisum sativum L.; water stress     

AQUATIC BIRDS FROM THE UPPER CRETACEOUS (LOWER CAMPANIAN) OF SWEDEN AND THE BIOLOGY AND DISTRIBUTION OF HESPERORNITHIFORMS

Abstract:  Isolated skeletal elements of three hesperornithiform taxa are recorded from marine strata of latest early Campanian ( sensu germanico ) age in the Kristianstad Basin, southern Sweden. The material comprises Hesperornis rossicus Nessov and Yarkov, one of the largest Mesozoic aquatic birds known to date, Hesperornis sp. and Baptornis sp. The holotype (a dorsal vertebra) of Parascaniornis stensioei Lambrecht is re-examined, and the nominal species is here considered as a nomen dubium because no diagnostic features can be found that separate the type from dorsals of Baptornis advenus . The distribution and palaeobiology of hesperornithiforms are reviewed.     

Breeding strategies of Antarctic Petrels Thalassoica antarctica and Southern Fulmars Fulmarus glacialoides in the high Antarctic and implications for reproductive success

Breeding strategies of two closely related fulmarine petrels were studied on Ardery Island, on the continental coast of East Antarctica, where short summers are expected to narrow the time-window for reproduction. Both species had a similar breeding period (97 days from laying to fledging) but Antarctic Petrels Thalassoica antarctica bred up to 16 days earlier than Southern Fulmars. During the pre-laying exodus, all Antarctic Petrels deserted the colony, whereas some Southern Fulmars Fulmarus glacialoides remained. Antarctic Petrels exhibited stronger synchronization in breeding, made longer foraging trips and spent less time guarding their chicks than Southern Fulmars. Overall breeding success of both species was similar but failures of Antarctic Petrels were concentrated in the early egg-phase and after hatching, when parents ceased guarding. Southern Fulmars lost eggs and chicks later in the breeding cycle and so wasted more parental investment in failed breeding attempts. Different breeding strategies may be imposed by flight characteristics; Southern Fulmars are less capable of crossing large expanses of pack ice and need to delay breeding until the sea ice retreats and breaks up. However, due to the short summer they risk chick failure when weather conditions deteriorate late in the season.     

An energy balance from absorbed photons to new biomass for Chlamydomonas reinhardtii and Chlamydomonas acidophila under neutral and extremely acidic growth conditions

Chlamydomonas is one of the most well-studied photosynthetic organisms that had important biotechnological potential for future bioproductions of biofuels. However, an energy balance from incident photons to the energy stored in the new biomass is still lacking. In this study, we applied a recently developed system to measure the energy balance for steady state growth of Chlamydomonas reinhardtii grown at pH 6.5, and C. acidophila that was grown at pH 6.5 and 2.6. Energy use efficiency was quantified on the basis of light absorption, photosynthetic quantum yield, photosynthetic and respiratory quotient, and electron partitioning into proteins, carbohydrates and lipids. The results showed that lower growth rates of C. acidophila under both pH conditions were not caused by the differences in the photosynthetic quantum yield or in alternative electron cycling, but rather by differences in the efficiency of light absorption and increased dark respiration. Analysis of the macromolecular composition of the cells during the light phase showed that C. acidophila uses biosynthetic electrons preferentially for carbohydrate synthesis but not for synthesis of lipids. This led to a strong diurnal cycle of the C/N ratio and could explain the higher dark respiration of C. acidophila compared with C. reinhardtii .