Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD to chromosome 1p36 (PARK6). Here we show that mutations in PINK1 (PTEN-induced kinase 1) are associated with PARK6. We have identified two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families: a truncating nonsense mutation and a missense mutation at a highly conserved amino acid. Cell culture studies suggest that PINK1 is mitochondrially located and may exert a protective effect on the cell that is abrogated by the mutations, resulting in increased susceptibility to cellular stress. These data provide a direct molecular link between mitochondria and the pathogenesis of PD.     

Effect of Mucine 4 and Fucosyltransferase 1 genetic variants on gut homoeostasis of growing healthy pigs

Putative genetic markers have been associated with ETEC F4 (Mucine 4 [MUC4]; MUC4^GG;CG as susceptible; MUC4^CC as resistant) and F18 (Fucosyltransferase 1 [FUT1]; FUT1^GG;AG as susceptible; FUT1^AA as resistant) resistances respectively. In this study, 71 post‐weaning pigs were followed from d0 (35 days old) to d42 (77 days of age) to investigate the effect of MUC4 or FUT1 genotypes on the mid‐jejunal microbiota composition, pigs expression of genes related to inflammation (IL8, GPX2, REG3G, TFF3, CCL20 and LBPI) and glycomic binding pattern profile (Ulex europaeus agglutinin I [UEA] fucose‐binding lectin and peanut agglutinin [PNA] galactose‐specific), and on blood plasma targeted metabolomics profile, faecal score and performance parameters of growing healthy pigs. The MUC4 and FUT1 resistant genotypes improved the pigs’ growth performance and had firmed faecal score susceptible genotypes in d0–d21 period. Pigs with MUC4^GG genotype had a higher jejunal expression of genes relate to immune function (CCL20 and REG3G) than MUC4^CG and MUC4^CC pigs (p < 0.05). MUC4^CG pigs had higher expression of TFF3 (implicated in mucosal integrity) than MUC4^GG and MUC4^CC (p < 0.05). FUT1 influenced the alpha‐ and beta‐jejunal microbial indices. The FUT1^AA group had a higher number of operational taxonomic units (OTUs) belonging to Lactobacillus genus, while FUT1^GG group had a higher number of OTUs belonging to Veillonella genus. MUC4^CC pigs had lower scores for UEA on brush borders and goblet cells in villi than MUC4^GG (p < 0.05). FUT1^AA pigs had lower UEA positivity and higher PNA positivity on brush borders and goblet cells than FUT1^AG and FUT1^GG (p < 0.05). Both FUT1 and MUC4 influenced the metabolic profile of healthy pigs. Results highlight the role of MUC4 and FUT1 on pig intestinal homoeostasis and improved the knowledge regarding the potential interaction between host genetics, gut microbiota composition and host metabolism in a healthy status.     

Chemical composition and antibacterial activity of essential oils from Thymus spinulosus Ten. (Lamiaceae)

The chemical composition of essential oils from aerial parts of Thymus spinulosus Ten. (Lamiaceae) is reported. Four oils from plants growing in different environmental conditions were characterized by GC and GC-MS methods; the oils seem to indicate a new chemotype in the genus Thymus. Influences of soil and altitude characteristics on the essential oil composition are discussed. The oils showed antibacterial activity against Gram-positive (Staphylococcus aureus, Streptococcus faecalis, Bacillus subtilis, and Bacillus cereus) and Gram-negative (Proteus mirabilis, Escherichia coli, Salmonella typhimuium Ty2, and Pseudomonas aeruginosa) bacteria.     

Survey of mealybug (Hemiptera: Pseudococcidae) vectors of <Emphasis Type="Italic">Ampelovirus</Emphasis> and <Emphasis Type="Italic">Vitivirus</Emphasis> in vineyards of northwestern Italy

Mealybugs (Hemiptera: Pseudococcidae) are sap-sucking insects which infest a broad range of crops worldwide. They represent an important threat to viticulture as they are vectors of viruses associated with leafroll and rugose wood complex diseases. In this study, we surveyed the presence of mealybugs and their associated viruses in vineyards of the Piemonte and Liguria regions, northwestern Italy. In order to determine the collected specimens correctly, we added a species-specific marker for Heliococcus bohemicus to an existing molecular identification key. The only species collected in Piemonte was H. bohemicus, whereas in Liguria, H. bohemicus, Planococcus ficus and Pseudococcus longispinus were found; Ps. longispinus has never before been reported in Italian vineyards. Several specimens of all three species were infected by the ampeloviruses GLRaV-1 and GLRaV-3 and the vitivirus GVA. Both nymphs and adult females tested positive for the viruses and mixed infections were commonly found within the same insect. Population levels and virus incidence were higher in Liguria than in Piemonte, suggesting a greater risk of disease spread. We conclude that the mild, Mediterranean climate of Liguria favors the development of a diverse mealybug fauna while only H. bohemicus, known to be tolerant to the severe continental winter temperatures, colonize grapevines in colder viticultural areas.     

Fate of iprovalicarb, indoxacarb, and boscalid residues in grapes and wine by GC-ITMS analysis

The behavior in field and the transfer from grapes to wine during winemaking of iprovalicarb, indoxacarb, and boscalid was studied. The residue levels found in grapes were far below the MRLs set for grapes in EU, accounting at harvest time 0.81, 0.43, and 4.23 mg/kg for iprovalicarb, indoxacarb, and boscalid, respectively. The residue levels in the samples treated with boscalid may have residual problems (due to an accumulation effect) if repeated field treatments will be performed. Winemaking experiments showed a complete transfer of all pesticide from grapes to the must, while in wine the residues were low or negligible due to the adsorbing effect of lees and pomace. The clarification experiments showed a good removal of pesticide residues from the wine media, for all pesticides. The GC-ITMS method showed good performance with adequate recoveries ranging from 75 to 115%, and good method limits of quantitation (LOQs) and of determination (LODs) far below MRLs.     

Statistical characterization of sicilian olive oils from the Peloritana and Maghrebian zones according to the fatty acid profile

This paper deals with the characterization of 475 Sicilian virgin olive oils (VOO) produced in 10 different crop years (from 1993 to 2004), according to the cultivar and the geographical origin by means of multivariate statistical analysis applied to fatty acids. In particular, the studied VOOs came from the Peloritana and Maghrebian geological zones. The fatty acid composition was determined by using the official gas chromatographic method. The results suggest that although the effect of the cultivar is significant in the olive oil classification based on the fatty acid composition, a predominant and well-defined geographic effect is also present. This study demonstrated that it is possible to employ an official and inexpensive analytical method coupled with the statistical analysis to ascertain the geographical origin and the cultivar of an extra virgin olive oil.     

Antioxidant oligomeric proanthocyanidins from sea buckthorn (Hippophae rhamnoides) Pomace

After flavonol glycosides, monomeric flavan-3-ols, and dimeric and trimeric proanthocyanidins were fractionated from an extract of sea buckthorn (Hippophae rhamnoides) pomace by Sephadex LH-20 gel chromatography, oligomeric proanthocyanidins were eluted. The oligomeric fraction accounted for 84% of the total proanthocyanidins and 75% of the total antioxidant activity of the sea buckthorn pomace extract. To elucidate the structure of the oligomeric fraction, it was depolymerized by acid catalysis in the presence of phloroglucinol. The structure of the resulting flavan-3-ol monomers and flavan-3-ol-phloroglucinol adducts was determined by electrospray ionization mass spectrometry (ESI-MS) and (1)H and (13)C nuclear magnetic resonance (NMR) spectroscopy. Quantitative high-performance liquid chromatography investigations demonstrated (+)-gallocatechin as the predominating subunit in the oligomeric fraction. This observation was confirmed by ESI-MS, matrix-assisted laser desorption/ionization mass spectrometry, and (13)C NMR spectroscopy. The results showed that the majority of the flavan-3-ol subunits possessed a 2,3-trans configuration. The oligomers consisted mainly of prodelphinidin subunits whereas procyanidins were present in smaller amounts, indicating a very uncommon composition of the sea buckthorn proanthocyanidins. The mean degree of polymerization of the oligomeric proanthocyanidins was between 6 and 9.     

DNA fingerprinting and quality traits of Corbarino cherry-like tomato landraces

Twenty-five landraces of the cherry-like tomato named Corbarino, a typical niche product grown in the Sarno valley of the Campania region, have been characterized. The landraces used have been compared to eight cultivars widely spread in the same area of cultivation. The genetic diversity within and between landraces was evaluated through the comparison of DNA fingerprints obtained with (GATA)(4) probe hybridized to TaqI digested genomic DNA. Twenty-two of the Corbarino landraces were homogeneous and were unequivocally characterized by their DNA fingerprints. The others are probably "population varieties" in that within each of them polymorphic DNA fragments were identified. According to the characterization of fruit shapes, four groups were identified. One landrace from each group, harvested at the same ripening degree, was further characterized for yield, fruit quality components, antioxidant activities, and carotenoid contents and compared to Faino F(1) and Tomito F(1) hybrids. The Corbarino landraces were all characterized by high yield, a high level of carbohydrates, and high levels of soluble and total solids. Interestingly, the biotype named ISCI 05 was the most suitable for canning. Landraces ISCI 07 and ISCI 05 gave the highest value of antioxidant activities and carotenoid content. These data, together with previously published results, suggested that ISCI 05 should be proposed for the institution of a Label of Origin.