Findings may lead to genetic tests
Researchers at The Hospital for Sick Children (Sick Kids) and Mount Sinai Hospital (MSH) have discovered a possible genetic mechanism behind congenital heart defects. This finding has implications for understanding how congenital heart defects occur, and may lead to genetic tests for certain defects, such as proteins that determine how genes are expressed. This also opens new insights into how general chromosome properties can relate to specific disease processes. This research is reported in the November 4, 2004 issue of the scientific journal Nature. "It was previously believed that all cells during development contained the same chromatin remodelling proteins that unwind DNA, a process that is important for genes to be turned on. However, we identified one of these proteins, called Baf60c, that is expressed specifically in the developing heart," said Dr. Benoit Bruneau, the studys co-principal investigator, a Sick Kids scientist and an assistant professor of Molecular and Medical Genetics at the University of Toronto (U of T). "When we completely suppressed the function of the Baf60c protein, there were dramatic cardiovascular defects. When we suppressed just half of the protein, the result was a defect that resembled one seen in infants," added Dr. Bruneau, also Canada Research Chair in Developmental Cardiology and member of U of Ts Heart & Stroke/Richard Lewar Centre of Excellence.
Using a novel way of reducing gene function called in vitro RNAi, the team developed mouse models with different levels of the protein. They were then able to see the effects of the suppressed protein using optical projection tomography at the Mouse Imaging Centre at Sick Kids. Knockout mice, where a specific gene is replaced, or removed, allow researchers to have precise control over a specific gene in order to study its function. "This new protein may provide new diagnostic tools and insights into how to treat cardiovascular problems," said Dr. Janet Rossant, the studys co-principal investigator and a senior investigator at the Samuel Lunenfeld Research Institute at MSH, as well as a professor of Molecular and Medical Genetics at U of T. Congenital heart defects are among the most prevalent and serious conditions affecting children, occurring in approximately one out of 100 live births in Canada. The next steps for this research involve examining patients with congenital heart defects to see if they, like the mouse model, have this modified protein.
Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH
Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences