Genetic variability in CYP3A4 and CYP3A5 in primary liver, gastric and colorectal cancer patients

<p>Abstract</p> <p>Background</p> <p>Drug-metabolizing enzymes play a role in chemical carcinogenesis through enzymatic activation of procarcinogens to biologically reactive metabolites. The role of gene polymorphisms of several cytochrome P450 enzymes in digestive cancer risk has been extensively investigated. However, the drug-metabolizing enzymes with the broader substrate specificity, CYP3A4 and CYP3A5, have not been analyzed so far. This study aims to examine associations between common CYP3A4 and CYP3A5 polymorphisms and digestive cancer risk.</p> <p>Methods</p> <p>CYP3A4 and CYP3A5 genotypes were determined in 574 individuals including 178 patients with primary liver cancer, 82 patients with gastric cancer, 151 patients with colorectal cancer, and 163 healthy individuals.</p> <p>Results</p> <p>The variant allele frequencies for patients with liver cancer, gastric cancer, colorectal cancer and healthy controls, respectively, were: <it>CYP3A4*1B</it>, 4.8 % (95% C.I. 2.6–7.0), 3.7 % (0.8–6.6) 4.3% (2.0–6.6) and 4.3% (2.1–6.5); <it>CYP3A5*3</it>, 91.8 % (93.0–97.4), 95.7% (92.6–98.8), 91.7% (88.6–94.8) and 90.8% (87.7–93.9). The association between <it>CYP3A4*1B </it>and <it>CYP3A5*3 </it>variant alleles did not significantly differ among patients and controls. No differences in genotypes, allele frequencies, or association between variant alleles were observed with regard to gender, age at diagnosis, tumour site or stage.</p> <p>Conclusion</p> <p>Common polymorphisms on <it>CYP3A4 </it>and <it>CYP3A5 </it>genes do not modify the risk of developing digestive cancers in Western Europe.</p

NAT2 (N-acetyltransferase 2 (arylamine N-acetyltransferase))

Review on NAT2 (N-acetyltransferase 2 (arylamine N-acetyltransferase)), with data on DNA, on the protein encoded, and where the gene is implicated

Sleep Disorders and Sleep Problems in Patients With Tourette Syndrome and Other Tic Disorders: Current Perspectives

Félix Javier Jiménez-Jiménez,1 Hortensia Alonso-Navarro,1 Elena García-Martín,2 José AG Agúndez2 1Section of Neurology, Hospital Universitario Del Sureste, Arganda del Rey, Madrid, Spain; 2Universidad de Extremadura, University Institute of Molecular Pathology Biomarkers, ARADyAL, Cáceres, SpainCorrespondence: Félix Javier Jiménez-Jiménez, Section of Neurology, Hospital Universitario Del Sureste, Ronda del Sur 10, Arganda del Rey, Madrid, E28500, Spain, Email [email protected]: Sleep disorders seem to be a frequent complaint of patients diagnosed with Tourette syndrome (TS) or chronic or persistent tic disorders (CTD or PTD). In this review, we expanded a previously used search using 4 well-known databases up to February 15, 2022, looking for the coexistence of global and/or specific sleep disorders and polysomnographic studies performed on patients with TS/CTD/PTD. The references of interest in the topic were selected by hand. Sleep disorders in general, insomnia, different arousal disorders, the persistence of tics during sleep, excessive daytime sleepiness, and periodic limb movements during sleep (PLMS) were very frequent in patients with TS, most of them being more frequent in patients with comorbid Attention Deficit Hyperactivity Disorder. The most frequent results from polysomnographic studies were decreased sleep efficiency and increased sleep onset latency. Many of these findings could be related to medication used for the treatment of tics and comorbid disorders.Keywords: Tourette syndrome, sleep disorders, insomnia, hypersomnia, arousal disorders, periodic limb movements during slee