Search results for "Genetica"

Nuclear Myc Promoter-Binding Protein-1 (MBP-1) Expression Is a Prognostic Factor in Invasive Ductal Breast Carcinoma

2010

Chi dice che i batteri fanno male? I CRISPR ed il loro potenziale genetico. In Le scienze naturali nella scuola

2019

L’immaginario collettivo non ha un’opinione buona e nemmeno benevola sui batteri. Sono spesso legati a concetti di mancanza di igiene, malattie ed a volte anche a situazioni più gravi financo la morte. È indubbio che alcuni generi di procarioti sono agenti patogeni di specifiche malattie infettive che, in passato più che oggi, hanno mietuto vittime nel genere umano. Ma che dire dei batteri lattici degli yogurt o della nostra flora batterica intestinale? C’è da aggiungere anche una lunga serie di organismi procarioti, non patogeni, che hanno, negli ultimi due secoli, costituito sistemi biologici idonei allo studio della biologia molecolare e della genetica molecolare. In definitiva è molto p…

Polimorfismi del gene CYP2A6 e dipendenza dal fumo in un gruppo di soggetti della Sicilia Occidentale

2006

E’ stato dimostrato che la diversa capacità di metabolizzare alcune sostanze è la conseguenza di differenze geneticamente determinate nelle attività di alcuni enzimi. In particolare, il citocromo P450 CYP2A6 ha diversi livelli di espressione interindividuali ed interetnici a causa di polimorfismi genetici; metabolizza circa il 70-80% della nicotina e ciò determina in alcune popolazioni una dipendenza interindividuale più o meno elevata dal fumo di sigaretta. Più in dettaglio, individui con alleli CYP2A6 con elevata attività metabolizzante (CYP2A6*1) avranno una maggiore dipendenza dalla nicotina, poiché questa, essendo metabolizzata velocemente, rimane nell’organismo per breve tempo: di con…

ALLELIC VARIANTS OF CYP2E1 GENE IN HEPATOCARCINOMA PATIENTS AND IN HEPATIC TUMOR CELL LINES

2011

Background and Aims: Hepatic enzyme CYP2E1 is involved in the metabolism of a number of exogenous and endogenous substances (i.e. ethanol, drugs and chemical carcinogens). Being polymorphic, CYP2E1 gene can give different xeno-metabolic capabilities in a population and it is well known that inadequate or no enzymatic deactivation of xenobiotics could induce an increased susceptibility to disease and cancer. In particular, one of the 5 -flanking region polymorphisms, able to differentiate CYP2E1 gene transcriptional activity, is caused by the appearance/disappearance of RsaI and PstI restriction sites, which generates two different alleles, namely *C1(Rsa+/Pst−) and *C2(Rsa−/Pst+) respective…

Genetic polymorphisms and epigenetics changes in human metabolizing enzymes genes to predict differential therapeutic drug effects

2013

It has been understood that genetic variability can influence individual ability to metabolize drugs (Kiyohara C. et al., 2002). In particular, sequence changes into some genes give to subject a variable capability to response to a therapy protocol, to begin a resistance toward therapeutic drugs or, on the contrary, to be more sensible to it: the genes of CYP-family, CYP2A6 and CYP2E1, are good examples. Nevertheless, gene expression can be affected either by DNA sequence mutations (polymorphisms) or by “epigenetic modifications”, such as DNA methylation of a CpG islands in a gene promoter ion (Zhu J. et al., 2009). For these reasons, it is indispensable, today, to integrate genetic analyse…

Gene amplification in fibroblasts from ataxia telangiectasia (AT) patients and in X-ray hypersensitive AT-like Chinese hamster mutants

2001

In search of functions involved in the regulation of gene amplification, and given the relevance of chromosome breakage in initiating the process, we analyzed the gene amplification ability of cells hypersensitive to inducers of DNA double-strand breaks and defective in cell cycle control: two human fibroblast strains derived from patients affected by ataxia telangiectasia (AT) and two hamster mutant cell lines belonging to complementation group XRCC8 of the rodent X-ray-sensitive mutants. These mutants are considered hamster models of AT cells. To measure gene amplification, the frequency and the rate of occurrence of N-(phosphonacetyl)-l-aspartate resistant cells were determined. In both …

CR1 allelic distribution in healthy italians and SLE patients

2010

Complement receptor type 1 (CR1; CD35), the receptor for C3b/C4b, has a molecular weight polymorphism involving four co-dominantly expressed alleles CR1*1, CR1*2, CR1*3 and CR1*4. The most common allotype in the Caucasian population is CR1*1. Previous studies on the frequency of the CR1 allele in Systemic Lupus Erythematosus (SLE) patients reported conflicting results. Recently an increased frequency of the CR1*2 allele was reported in Caucasian SLE patients. The aim of our study is to assess the frequency of CR1 structural alleles in a sample of the Italian population and in a cohort of Italian SLE patients equally distributed nationwide. We found that the most common phenotype was CR1*1.1…

Evaluation of DNA damage in murine fibroblasts treated with cigarette smoke condensate

2006

CSC is a complex chemical mixture containing about 4800 compounds, many of them have cytotoxic and mutagenic activities on mammalian cells. Most of these compounds are able to interact with DNA at different levels. Cells may respond to DNA damage by following different pathways, such as the DNA repair processes and the cell cycle and DNA damage checkpoint activation. To the aim to evaluate the biological effects of CSC on cells, alkaline comet assay and flow cytofluorimetry were used to examine DNA damage/repair and cell cycle progression. All experiments were performed by using CSC from standard cigarettes in the range of doses 30-180g/ml and Swiss 3T3 murine fibroblasts. Results obtained…

Studio sull'induzione di danno al DNA, micronuclei ed alterazioni del ciclo cellulare da condensato di sigaretta

2006

Numerosi studi confermano l’associazione tra fumo di sigaretta e insorgenza di patologie-polmonari, cardiovascolari e tumori. Il fumo, infatti, contiene diversi composti mutageni c cancerogeni. Premesso che non esiste una sigaretta sicura, è comunque possibile attuare strategie per caratterizzare e ridurre il rischio. In questo studio, abbiamo utilizzato test in vitro per investigare i possibili meccanismi d’azione del condensato di sigaretta (CSC), ovvero la frazione particolata del fumo, assorbita nei polmoni del fumatore e successivamente metabolizzata. Analisi precedenti avevano dimostrato che il CSC, dopo 24h di trattamento induce decremento della vitalità delle cellule Swiss3T3 (IC50 …

Identification and validation of novel molecules obtained by integrated computational and experimental approaches for the readthrough of PTCs in CF c…

2014

Cystic Fibrosis patients with nonsense-mutation in h-CFTR gene generally make virtually no CFTR protein and thus often have a more severe form of CF. Ataluren (PTC124) was suggested to induce read-through of premature but not normal termination codons. Despite the promising results there is not a general consensus on the mechanism of its action (protein stabilization or codon read-through) and its efficacy, the identification of new PTC124 analogues and the study of the mechanism of action may led to a new strategy for the development of a pharmacologic approach to the cure of CF.