“
“OBJECTIVE: The aim of this study was to evaluate the prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation (AF).
METHODS: A cohort of 136 unrelated patients with idiopathic atrial fibrillation and 200 unrelated, ethnically matched healthy controls were enrolled. The coding exons and splice junctions of the Nkx2.5 gene were sequenced in 136 atrial fibrillation patients, and the available relatives of mutation carriers and 200 controls were subsequently selleck products genotyped for the
identified mutations. The functional characteristics of the mutated Nkx2.5 gene were analyzed using a dual-luciferase reporter assay system.
RESULTS: Two novel heterozygous Nkx2.5 mutations (p.N19D and p.F186S) were identified in 2 of the 136 unrelated atrial fibrillation cases, with a mutational prevalence of approximately 1.47%. These missense mutations co-segregated with atrial fibrillation in the families and were absent in the 400 control chromosomes. Notably, 2 mutation Selleckchem Combretastatin A4 carriers
also had congenital atrial septal defects and atrioventricular block. Multiple alignments of the Nkx2.5 protein sequences across various species revealed that the altered amino acids were completely conserved evolutionarily. Functional analysis demonstrated that the mutant Nkx2.5 proteins were associated with significantly reduced transcriptional activity compared to their wild-type counterpart.
CONCLUSION: These findings associate the Nkx2.5 loss-of-function mutation
with atrial fibrillation and atrioventricular block and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation. These results also have potential implications for early prophylaxis and allele-specific therapy of this common arrhythmia.”
“A method is described for the construction of a highly sensitive amperometric sensor for the detection of tyrosine, employing a magnetic nanoparticles-zinc oxide/zinc hexacyanoferrate (Fe3O4NP-ZnO/ZnHCF) hybrid film electrodeposited on the surface of a Pt electrode as working electrode. The sensor is based on electrocatalytic mechanism initiated by electrochemical oxidation of the reduced form of the hybrid film at +0.2 V vs. Ag/AgCl followed by completion of Sapanisertib supplier chemical oxidation of tyrosine. The sensor showed optimum response within 2 s at pH 2. The working/linear range of the sensor was 0.02-2.76 mM with a detection limit of 4 mu M. The sensor measured tyrosine level in serum, a potential biomarker of phenylketonuria. The working electrode lost only 5 % of its initial activity, when stored at 4 A degrees C, after its regular use over a period of 100 days.”
“Clinical guidelines for obstetrical practice were first published by the Japan Society of Obstetrics and Gynecology (JSOG) and the Japan Association of Obstetricians and Gynecologists (JAOG) in 2008, and a revised version was published in 2011.