Role of S128R polymorphism of E-selectin in colon metastasis formation

The extravasation of cancer cells is a key step of the metastatic cascade. Polymorphisms in genes encoding adhesion molecules can facilitate metastasis by increasing the strength of interaction between tumor and endothelial cells as well as impacting other properties of cancer cells. We investigated the Ser128Arg (a561c at the nucleotide level) polymorphism in the E-selectin gene in patients with metastatic colon cancer and its functional significance. Genotyping for a561c polymorphism was performed on 172 cancer patients and on an age-matched control population. The colon cancer group was divided into groups with (M(+)) and without observable metastasis (M(-)). For in vitro functional assays, Huvec transfected cells expressing wild-type (WT) or the S128R variant of E-selectin were established to study in vitro binding ability and signal transduction processes of T84 colon cancer cell line. Our results demonstrated that the Arginine(128) allele was more prevalent in the M(+) group than in the M(-) group or normal controls (p < 0.005; odds ratio, 1.56; 95% confidence interval (CI) 1.16-1.92; p < 0.001, odds ratio = 1.65; CI = 1.24-1.99, respectively). In vitro, S128R E-selectin transfected Huvec cells, supported increased adhesion as well as increased cellular signaling of T84 cancer cells compared to WT E-selectin and mock-transfected Huvec cells. These findings suggest that the E-selectin S128R polymorphism can functionally affect tumor-endothelial interactions as well as motility and signaling properties of neoplastic cells that may modulate the metastatic phenotype

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders

The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR gene in ASD. With the aim of contributing further information to this topic we have sequenced the entire coding region and the intron/exon junctions of the GRPR gene in 149 Italian autistic patients. The results of this study led to the identification of four novel point mutations, two of which, that is, C6S and L181F, involve amino acid changes identified in two patients with ASD and Rett syndrome, respectively. Both the leucine at position 181 and the cysteine at position 6 are strongly conserved in vertebrates. C6S and L181F mutant proteins were expressed in COS-7 and BALB/3T3 cells, but they did not affect either GRP's binding affinity or its potency for stimulating phospholipase C-mediated production of inositol 1,4,5-trisphosphate. In summary, our results do not provide support for a major role of the GRPR gene in ASD in the population of patients we have studied. However, there is a potential role of C6S and L181F mutations on GRPR function, and possibly in the pathogenesis of the autistic disorders in the two patient

TIPIZZAZIONE DEL DNA DI DITTERI CAMPIONATI SU UN CORPO RINVENUTO IN SICILIA

L’entomologia forense, come ormai ampiamente noto, viene utilizzata routinariamente nelle indagini forensi, in particolare in quei casi nei quali i classici dati tanatocronologici (ipostasi, rigidità, temperatura corporea, ecc.) non possono essere d’ausilio per l’identificazione dell’epoca della morte. Gli insetti campionati su resti cadaverici, per potere essere utilizzati a fini forensi, necessitano di una precisa identificazione di specie, dato che ciascuna specie si caratterizza per una differente durata del ciclo vitale. Gli insetti che colonizzano il cadavere, soprattutto nelle prime fasi di colonizzazione, hanno una distribuzione abbastanza uniforme in tutto il mondo, tuttavia è possibile a volte rinvenire delle differenze correlate alla fauna locale. In questo lavoro viene presentato un case report in cui dimostriamo l’utile integrazione tra i dati di entomologia forense e quelli di tassonomia molecolare

ANALISI DI POLIMORFISIMI STR NELLA SICILIA OCCIDENTALE

ANALISI DI POLIMORFISIMI STR NELLA SICILIA OCCIDENTALE

COLLAGENASI RICOMBINANTI DI C. HISTOLYTICUM E METODO PER LA LORO PRODUZIONE.

La presente descrizione si riferisce alla produzione di collagenasi ricombinanti, in particolare è qui descritto un metodo per la produzione di collagenasi Col ricombinante di Clostridium histolyticum caratterizzato da una resa maggiore a circa 140mg/l di coltura di detta collagenasi in forma biologicamente attiva, collagenasi prodotte mediante detto metodo, composizioni che le comprendono e loro uso

C. HYSTOLITICUM RECOMBINANT COLLAGENASES AND METHOD FOR THE MANUFACTURE THEREOF

The present invention relates to the production of recombinant collagenases, and in particular describes a method for the production of recombinant clostridium histolyticum collagenases Col characterized by a yield higher than approximately 140 mg/l of culture of said collagenases in soluble, biologically active form, collagenases produced by this method, compositions comprising these collagenases and the use thereof

An association analysis to identify genetic variants linked to asthma and rhinoconjunctivitis in a cohort of Sicilian children

Asthma and rhino-conjunctivitis are common chronic diseases in childhood. In this cross-sectional study, we performed a gene association analysis with current asthma and rhino-conjunctivitis in a cohort of Sicilian children aged 10-15 years. Overall, our findings reveal the importance of different genetic variants at 4p14, 16p12.1, 17q12, 6p12.2 and 17q21.1, identifying possible candidate genes responsible for susceptibility to asthma and rhino-conjunctiviti