Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutation in Mouse Circulatory Gene That Mimics A Form of Congenital Heart Disease

08.06.2005



Mutations in a critical gene that controls heart and blood vessel development in mouse embryos mimics a type of congenital heart disease in humans, according to new research led by Michael S. Parmacek, MD, Director of the Penn Cardiovascular Institute at the University of Pennsylvania School of Medicine. Congenital heart disease (CHD) occurs in approximately one in one hundred newborn infants. Knowing the basic genetic causes of congenital heart disease will allow for the development of CHD prenatal diagnosis, as well as treatments to prevent or correct infant and adult heart disease.

Using genetically engineered mice, the researchers found that mice with a mutation in the gene for myocardin-related transcription factor B (MRTF-B) had defects in developing arteries associated with the embryonic heart. Specifically, these mice had a variation of a childhood condition known as a truncus arteriosis defect, a relatively rare form of CHD that occurs in infants in which the aorta does not appropriately separate from the pulmonary artery. (Click on thumbnail above to view full-size image). As a result, oxygenated and deoxygenated blood mix, resulting in insufficient amounts of oxygen being transported to tissues. This causes cyanosis, which is commonly referred to as “blue babies.” Senior author Parmacek and his colleagues published their findings in this week’s early online edition of the Proceedings of the National Academy of Sciences.

Using the gene itself as a marker, the researchers confirmed that the problems in the mouse blood vessels originated from defects in the cardiac neural crest cells, stem cells that migrate from regions of the brain to the heart in developing embryos. These cells populate the heart and eventually differentiate into the smooth muscle cells of the major blood vessels.



“When we looked at the embryonic heart and great arteries during early development in the mice, we saw a variety of defects in the major arteries, suggesting defective patterning of the newly formed blood vessels, including the pulmonary artery, the carotid artery, and the aorta,” notes Parmacek. “These were all consistent with the defects observed later on that caused the embryos not to survive after birth.”

Overall, the researchers demonstrated that the cardiac neural crest cells that originate in the brain do migrate to the heart and outflow tract areas; but, unlike in normal mice, the cells with mutations did not differentiate into smooth muscle cells. As a result, the cells did not form the structure that separates the aorta from the pulmonary artery. “This is the first evidence that a block in stem-cell differentiation is responsible for forms of congenital heart disease,” says Parmacek. “Understanding how MRTF-B works will let us see how this critical junction in the development of the circulatory system regulates how tissues unfold downstream.”

The study was funded in part by the National Institutes of Health. Penn study co-authors are Jian Li, Xiaohong Zhu, Mary Chen, Lan Cheng, Deying Zhou, MinMin Lu, Kevin Du, and Jonathan A. Epstein.

Karen Kreeger | EurekAlert!
Further information:
http://www.uphs.upenn.edu

More articles from Life Sciences:

nachricht Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel

nachricht Researchers develop eco-friendly, 4-in-1 catalyst
25.04.2017 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

7th International Conference on Crystalline Silicon Photovoltaics in Freiburg on April 3-5, 2017

03.04.2017 | Event News

 
Latest News

Scientist invents way to trigger artificial photosynthesis to clean air

26.04.2017 | Materials Sciences

Ammonium nitrogen input increases the synthesis of anticarcinogenic compounds in broccoli

26.04.2017 | Agricultural and Forestry Science

SwRI-led team discovers lull in Mars' giant impact history

26.04.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>