Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Major genetic discovery explains 10 percent of aortic valve disease

Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.

"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!
Further information:

More articles from Health and Medicine:

nachricht NIH scientists describe potential antibody treatment for multidrug-resistant K. pneumoniae
14.03.2018 | NIH/National Institute of Allergy and Infectious Diseases

nachricht Researchers identify key step in viral replication
13.03.2018 | University of Pittsburgh Schools of the Health Sciences

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Researchers at Fraunhofer monitor re-entry of Chinese space station Tiangong-1

In just a few weeks from now, the Chinese space station Tiangong-1 will re-enter the Earth's atmosphere where it will to a large extent burn up. It is possible that some debris will reach the Earth's surface. Tiangong-1 is orbiting the Earth uncontrolled at a speed of approx. 29,000 km/h.Currently the prognosis relating to the time of impact currently lies within a window of several days. The scientists at Fraunhofer FHR have already been monitoring Tiangong-1 for a number of weeks with their TIRA system, one of the most powerful space observation radars in the world, with a view to supporting the German Space Situational Awareness Center and the ESA with their re-entry forecasts.

Following the loss of radio contact with Tiangong-1 in 2016 and due to the low orbital height, it is now inevitable that the Chinese space station will...

Im Focus: Alliance „OLED Licht Forum“ – Key partner for OLED lighting solutions

Fraunhofer Institute for Organic Electronics, Electron Beam and Plasma Technology FEP, provider of research and development services for OLED lighting solutions, announces the founding of the “OLED Licht Forum” and presents latest OLED design and lighting solutions during light+building, from March 18th – 23rd, 2018 in Frankfurt a.M./Germany, at booth no. F91 in Hall 4.0.

They are united in their passion for OLED (organic light emitting diodes) lighting with all of its unique facets and application possibilities. Thus experts in...

Im Focus: Mars' oceans formed early, possibly aided by massive volcanic eruptions

Oceans formed before Tharsis and evolved together, shaping climate history of Mars

A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...

Im Focus: Tiny implants for cells are functional in vivo

For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.

In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...

Im Focus: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Virtual reality conference comes to Reutlingen

19.03.2018 | Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

Latest News

TRAPPIST-1 planets provide clues to the nature of habitable worlds

21.03.2018 | Physics and Astronomy

The search for dark matter widens

21.03.2018 | Materials Sciences

Natural enemies reduce pesticide use

21.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>