Search results for " Genetica"

Translational readthrough inducing drugs: a study of toxicity in mice models and in vitro safety validation of the specific readthrough process.

2022

Objective Nonsense mutations are responsible for 15% of Cystic Fibrosis (CF) patients due to the introduction of a premature stop codon (PTC) in the mRNA and the production of a truncated CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein1. A promising therapeutic approach for stop mutations is the suppression therapy by Translational Readthrough Inducing Drugs (TRIDs) to restore the expression of the protein2,3. Recently three new TRIDS (NV848, NV914, NV930) have been proposed and validated by several assays. Our work was focused on TRIDs NV848, NV914, NV930. Important aspects of TRIDs to be evaluated are their specificity towards PTC, to demonstrate that TRIDs do not inter…

X CONVENTION OF INVESTIGATORS IN CYSTIC FIBROSIS.

2012

Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Approximately 10% (worldwide) of patients have in-frame nonsense mutations (UAA, UAG or UGA class I mutations) in the CF trans-membrane regulator (CFTR) gene that result in premature stop codons (PTCs) in the messenger RNA (mRNA) generating truncated CFTR protein responsible for a severe CF phenotype. Pharmacological approaches have been proposed to directly overcome PTCs. Ataluren (PTC124) a small molecule that mimics the activity of aminoglycosides has been suggested to allow PTCs readthrough and to partially restore the protein function. However, des…

Ruolo del rimodellatore della cromatina ATP-dipendente ISWI nel controllo del ciclo cellulare e del differenziamento.

2008

CYP2E1 VNTR polymorphisms and hepatocarcinoma: a gender-specific correlation

2010

Cytochrome P450 (CYP2E1) is often associate to susceptibility to alcohol-related diseases and various cancers, because of its role in the metabolism of multiple environmental xenobiotics. In the 5’- flanking region of the human CYP2E1 gene there are restriction fragment length polymorphism which are involved in the transcriptional regulation of the CYP2E1 gene. Recently a tandem repeat polymorphism (VNTR) in the 5’-flanking region of CYP2E1 was found. Because cytochrome P450 2E1 catalyzes the metabolic activation of pro-carcinogen and cytotoxic compound, we value the genetic distribution of this tandem repeat polymorphism in a healthy population, and in patients with hepatocellular carcinom…

Variable Number of Tandem Repeats (VNTR) gene polymorphism of CYP2E1 in patients with pancreatic adenocarcinoma

2010

Context: The genetic polymorphism is considered a major source of variability, influencing the levels of gene expression. Cytochrome P450 2E1 (CYP2E1) is a mixed-function oxidase involved in the metabolism of the many endogenous and exogenous substances (ethanol, chemical carcinogens) in the hepatic and pancreatic tissue. CYP2E1 gene polymorphisms can cause various abilities of metabolize xenobiotic substances within a population with consequent increased susceptibility to various diseases,including cancer. One of the polymorphisms of the CYP2E1 gene is a VNTR (Variable Number Tandem Repeat) of some sequences in its "5 '- flanking region. Method : VNTR genotype CYP2E1 was determined by RFLP…

Role of “mate tea” extracts modulating DNA methylation: in vitro studies for future significances for human health

2015

It is known that a healthy and balanced diet is essential for maintaining a state of good health of the individual, and that the onset of many diseases is related to inadequate nutrition. Many small molecules contained in foods (Food Small Molecules, SFMs) have the ability to influence the functioning of many cellular metabolic pathways. The term nutrigenomics, in fact, refers to an emerging branch of genetics and biochemistry which has the aim of identifying how the nutrients can determine the innate risk of developing diseases (diabetes, obesity, cardiovascular disease and some cancers). In addition, with the help of epigenetics, it is possible to further understand how the SFMs act on DN…

Chi è il proprietario delle scoperte fatte in Antartide sulla salute umana?

2018

Parlando di sovranità in Antartide è doveroso porsi oggi una questione che potrà diventare “spinosa” fra poco tempo, a cavallo fra la scienza e la politica mondiale dei beni comuni. Si tratta del problema della proprietà intellettuale di organismi (per lo più batteri) isolati in Antartide dai quali poter ricavare antibiotici o prodotti in genere per la salute umana. La sovranità che il trattato Antartico del 1959 non assegnava ad alcun stato in modo da estenderlo a tutti gli stati, cosa può, oggi, determinare su questa questione? Nel 1959 non si poteva mai pensare ad uno sfruttamento biotecnologico dei viventi in Antartide e la storia recente è tristemente piena di successi scientifici, anc…

Bitter taste genetics and food preference in italian population

2010

Objective: To investigate the possible role of the polymorphic bitter taste gene, TAS2R38, known to be involved in the perception of the bitter synthetic chemical phenylthiocarbamide (PTC), in influencing food preference and body mass index(BMI). Methods: up to now more than 1500 university students (17-25 years old) at Catania, Cosenza, Rome, Palermo, Pisa, Parma, Chieti, Trento University have been enrolled in the study. DNA was extracted from saliva, and genotyped by TaqMan assay for the most frequent polymorphism (PAV/AVI) of TAS2R38 gene. A possible association between genotype and food preference was assessed by administering a detailed questionnaire for food preferences and life styl…

Telomerase activity in cells with arsenic-induced genomic instability

2005

It is well known that the occurrence of dicentric chromosomes represent signature of telomere dysfunction and is a clear symptom of genomic instability. V79 Chinese hamster cells, treated with 10μM sodium arsenite for 24h and allowed to grow in drug-free medium (ASO cells), showed genomic instability with aneuploidy and nuclear abnormalities as well as the appearance of dicentric chromosomes since the 90th cell generation. TRAP assay was performed on growing ASO cells and on clones isolated during the course of the expanded growth. As expected, some clones with dicentric chromosomes and severely reduced telomerase activity went to death; surprisingly, other clones also bearing chromosomal e…

Telomere dysfunction in cells with arsenic-induced genomic instability

2005

It is well known that the occurrence of dicentric chromosomes represent signature of telomere dysfunction and is a clear symptom of genomic instability. V79 Chinese hamster cells, treated with 10µM sodium arsenite for 24h and allowed to grow in drug-free medium (ASO cells), showed genomic instability with aneuploidy and nuclear abnormalities as well as the appearance of dicentric chromosomes since the 90th cell generation. TRAP assay was performed on growing ASO cells and on clones isolated during the course of the expanded growth. As expected, some clones with dicentric chromosomes and severely reduced telomerase activity went to death; surprisingly, other clones also bearing chromosomal e…