Spongillidi (Porifera, Demospongiae) del Fiume Temo (Sardegna nord-occidentale)

This work concerns a) presence, distribution and life cycle of spongillids from River Temo catchment basin and b) possible morpho-functional and life cycle adaptations in relation to environmental conditions. Samplings were carried out from 1984 to 1993 in seven sites located on the principal water-course and tributaries. Results showed the presence of sponges, in all stations but the river mouth, belonging to Ephydatia fluviatilis. The presence of only this species seems to be related to its great plasticity allowing to adapt populations to a large range of water and climatic regimes. The steady presence of gemmules in all seasons may be seen as a strategy to face springer-autumnal floods and summer drought. These sponges show a high morphological uniformity, such as crusty shape and small size, whereas gemmuloscleres morphometry is very variable

Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency

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Genetic diversity of Sardinian goat population based on microsatellites

During the last century, the selection for production traits of the main livestock species has led to a reduction in number of local populations with consequent loss of genetic variability. In Sardinia, the genetic improvement strategy has been based on selection for the local pure breed in sheep, whereas in the other species (cattle, swine and goat), an often unplanned crossbreeding with improved breeds has been applied. In this context, several studies on genetic diversity of these populations have been started with the final aim of recovering the autochthonous genetic types. The global approach involves different steps: - characterization of the farming system and typical products; - morphological and productive evaluation of the animals; - genetic characterization of the populations through molecular DNA analyses (microsatellites, AFLP, mitochondrial DNA, etc.); - creation of nucleus flocks in public farms and germoplasm banks; - organization of herd-books involving farmers interested in the safeguard of local breeds and valorisation of traditional products. A far as the goat population is concerned, Sardinia is the Italian region with the largest goat stock, (209.000 heads, about 23% of the total national stock). Farms are located in mountains, low hills and even plans (Macciotta et al., 2002) resulting in a quite large variability (Brandano and Piras, 1978) in terms of feeding and management techniques; but extensive and semi extensive systems in marginal areas prevail (Carta et al., 2001; Usai et al., 2004). The current population has been constituted by crossbreeding the autochthonous animals with other improved Mediterranean breeds,mainly Maltese goat. The aim of this paper is to study the genetic variability of this population through the analysis of 17 microsatellite markers

Genetic variation of goat Y chromosome in the Sardinian population

Sardinian goat population is commonly considered a crossbred of autochthonous animals with improved Mediterranean breeds, mainly the Maltese. It has been demonstrated by using autosomal microsatellites that the Sardinian goats can be divided into three subpopulations: Sardinian, crossbred with Maltese, and Maltese. The aim of this study was to evaluate sequence variation at Y chromosome in Sardinian bucks and to integrate autosomal microsatellites data. Blood from 190 bucks from 68 farms spread in the main Sardinian goat farming areas was sampled. Three ECONOGENE project primer pairs plus an additional one corresponding to a total of 7 SNPs were used. For all common SNPs, the most frequent allele corresponded to the ECONOGENE one. The additional analysed SNP showed allelic frequencies similar to the other markers. The comparison with haplotypes based on the 6 common SNPs showed that the Sardinian most frequent haplotype corresponded to the predominant one in Central Europe. Results of this study showed that the Sardinian goat population has 8 haplotypes resulting in a large diversity of paternal lineages. The next step will be linking autosomal information to Y chromosome data. In fact, up to date, it seems unfeasible to detect recent upgrading breeds by using Y chromosome variation only

Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease

Alexander's disease (AxD) is a rare, usually relentlessly progressive disorder of astroglial cells in the central nervous system related to mutations in the gene encoding the type III intermediate filament protein, glial fibrillary acidic protein (GFAP). The pathophysiology of AxD is only partially understood. Available data indicate that an excessive GFAP gene expression may play a role. In particular, a "threshold hypothesis" has been reported, suggesting that mutant GFAP representing about 20% of the total cellular GFAP should be sufficient to cause disease. Thus, strategies based on reducing cellular mutant GFAP protein levels and/or activating biological processes involved in the correct protein folding could be effective in counteracting the toxic effect of misfolded GFAP. Considering that clomipramine (CLM), which has been selected by a wide small molecules screening as the greatest inhibitory potential drug against GFAP expression, is contraindicated because of its proconvulsant activity in the infantile form of AxD, which is also characterized by the occurrence of epileptic seizures, two powerful antiepileptic agents, carbamazepine (CBZ) and phenytoin (PHT), which share specific stereochemical features in common with CLM, were taken into consideration in a reliable in vitro model of AxD. In the present work, we document for the first time that CBZ and PHT have a definite inhibitory effect on pathological GFAP cellular expression and folding. Moreover, we confirm previous results of a similar beneficial effect of CLM. In addition, we have demonstrated that CBZ and CLM play a refolding effect on mutant GFAP proteins, likely ascribed at the induction of CRYAB expression, resulting in the decrease of mutant GFAP aggregates formation. As CBZ and PHT are currently approved for use in humans, their documented effects on pathological GFAP cellular expression and folding may indicate a potential therapeutic role as disease-modifying agents of these drugs in the clinical management of AxD, particularly in AxD patients with focal epilepsy with and without secondary generalization

One polymorphism at the Stearoyl CoA Desaturase (SCD) gene is associated to CLA content of sheep milk fat

On OAR 22 a highly significant QTL affecting the rate of desaturation of vaccenic acid (VA) to conjugated linoleic acid (CLA) in the mammary gland of sheep was found segregating on four dairy sheep families of a Sardinian x Lacaune back-cross population. The most likely location of the QTL was 35 cM corresponding to Stearoyl CoA Desaturase (SCD) gene location on the Australian Sheep Gene Map. The aim of this work was finding mutations along the SCD gene associated with the CLA/VA variability in sheep milk. The sequencing of a large part of the gene in the four informative sires allowed identifying one SNP in intron 4 (3295 C>T relative to Capra hircus SCD gene, GenBank Acc. no. AH011188). The sequencing of high and low phenotypic tails’ progeny from the most significant family showed a strong association of the found mutation with the CLA/VA variability

Genetic diversity of Italian goat breeds assessed with a medium-density SNP chip

Background: Among the European countries, Italy counts the largest number of local goat breeds. Thanks to the recent availability of a medium-density SNP (single nucleotide polymorphism) chip for goat, the genetic diversity of Italian goat populations was characterized by genotyping samples from 14 Italian goat breeds that originate from different geographical areas with more than 50 000 SNPs evenly distributed on the genome. Results: Analysis of the genotyping data revealed high levels of genetic polymorphism and an underlying North-south geographic pattern of genetic diversity that was highlighted by both the first dimension of the multi-dimensional scaling plot and the Neighbour network reconstruction. We observed a moderate and weak population structure in Northern and Central-Southern breeds, respectively, with pairwise FST values between breeds ranging from 0.013 to 0.164 and 7.49 % of the total variance assigned to the between-breed level. Only 2.11 % of the variance explained the clustering of breeds into geographical groups (Northern, Central and Southern Italy and Islands). Conclusions: Our results indicate that the present-day genetic diversity of Italian goat populations was shaped by the combined effects of drift, presence or lack of gene flow and, to some extent, by the consequences of traditional management systems and recent demographic history. Our findings may constitute the starting point for the development of marker-assisted approaches, to better address future breeding and management policies in a species that is particularly relevant for the medium-and long-term sustainability of marginal regions

Multiple non-species-specific pathogens possibly triggered the mass mortality in Pinna nobilis

The fan mussel, Pinna nobilis, represents the largest bivalve endemic to the Mediterranean Sea. Since 2016, dramatic mass mortality of this species has been observed in several areas. The first surveys suggested that Haplosporidium pinnae (currently considered species-specific) was the main etiological agent, but recent studies have indicated that a multifactorial disease may be responsible for this phenomenon. In this study, we performed molecular diagnostic analyses on P. nobilis, P. rudis, and bivalve heterologous host species from the island of Sardinia to shed further light on the pathogens involved in the mass mortality. The results support the occurrence of a multifactorial disease and that Mycobacterium spp. and H. pinnae are not necessarily associated with the illness. Indeed, our analyses revealed that H. pinnae is not species-specific for P. nobilis, as it was present in other bivalves at least three years before the mass mortality began, and species of Mycobacterium were also found in healthy individuals of P. nobilis and P. rudis. We also detected the species Rhodococcus erythropolis, representing the first report in fan mussels of a bacterium other than Mycobacterium spp. and Vibrio spp. These results depict a complicated scenario, further demonstrating how the P. nobilis mass mortality event is far from being fully understoo