"This is more than the sum of the genes found to date in all previous studies, which explained only 1% of the disease, says Dr. Marc-Phillip Hitz, lead author of the study published in PLOS Genetics, under the direction of Dr. Gregor Andelfinger, pediatric cardiologist and principal investigator leading an international research team, who calls this study "a very important step towards a molecular catalog, which ultimately may explain the evolution of disease in individual patients and allow to influence the progression of the disease."
Congenital heart malformations are at the forefront of all malformations in newborns, and one of the most important causes of infant mortality in Western countries. For their study, the researchers focused on malformations of the aortic valve, where familial clustering of cases often suggests a hereditary component. The researchers therefore decided to adopt a "family approach" and selected families with several members having a heart condition, in order to be able to establish a direct link with the disease.
Using very strict filtering criteria to identify possible causal copy number variants –a structural form of variation of the genetic makeup that leads to an increase or decrease in the copy number of small parts of DNA within the genome– the researchers retained only rare variants directly involved in the disease processes and causing severe adverse health effects. The variants had to be carried by the patients but not by healthy members of their family. Researchers then validated the identified genes by confirming that they were highly expressed in the developing mouse heart.
The study also noted that many affected patients carried more than one rare variant. This finding had already been made in the context of other congenital diseases. In addition, the study reveals that in the 59 families analyzed, no copy number variants recurred between two families. "Despite the homogeneity of the French-Canadian population as compared to other populations and similarities seen within families, we realize that copy number variants are very different between families with no genealogical connection. From a genetic point of view, the diseases we looked at are a "family affair."
Moreover, although the study focused on the aortic valve area, genes explaining associated conditions have been identified. "It is striking that the majority of the identified genes also play an important role in blood vessels, not just in the valves of the heart," says Dr. Andelfinger. Indeed, the images are of striking clarity: expression patterns of the genes identified selectively stain areas of the heart where lesions are observed. "Numerous patients continue to have problems after successful initial intervention on the aortic valve, such as aortic dilation. Our study sheds new light on the link between the two issues, something we always observed clinically but had a hard time to explain," he concludes.
William Raillant-Clark | EurekAlert!
Hot cars can hit deadly temperatures in as little as one hour
24.05.2018 | Arizona State University
3D images of cancer cells in the body: Medical physicists from Halle present new method
16.05.2018 | Martin-Luther-Universität Halle-Wittenberg
The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.
Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...
A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.
The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
25.05.2018 | Event News
02.05.2018 | Event News
13.04.2018 | Event News
25.05.2018 | Event News
25.05.2018 | Machine Engineering
25.05.2018 | Life Sciences