The work, which was posted to the Web site of the journal Nature Medicine yesterday, is a follow-up to the team’s 2006 discovery of the cellular cause of TCS.
The team evaluated how a mutated TCOF1 gene causes the death of neural crest cells that should otherwise form most of the bone, cartilage, and connective tissue that make up the head and face during embryonic development. The loss of these cells results in abnormal development of the ear, nose, and upper and lower jaw, including cleft palate.
The team discovered that chemical inhibition of a single protein, the product of the p53 gene, could prevent the craniofacial abnormalities caused by the TCOF1 mutation. They also showed that inactivation of the p53 gene itself enabled neural crest cells to survive and form normal craniofacial structures in embryos carrying the TCOF1 mutation.
“Inhibition of the p53 protein was enough to prevent neural crest cells from dying during early embryogenesis and essentially rescue the mouse embryo from the devastating craniofacial features associated with TCS,” said Natalie Jones, Ph.D., formerly a Postdoctoral Research Associate in the Trainor Lab and first author on the paper. “The successful rescue of neural crest cell development in a congenital craniofacial anomaly such as TCS is exciting because it provides an attractive model for the prevention of other craniofacial birth defects of similar origins.”
“These findings are the culmination of years of efforts to better understand TCS,” said Paul Trainor, Ph.D., Associate Investigator and senior author on the paper. “People diagnosed with severe TCS typically undergo multiple, major reconstructive surgeries that are rarely fully corrective. The inhibition of p53 brings us much closer to our ultimate goal — preventing TCS and the suffering it causes altogether.”
“By its very nature, the progress of basic biomedical research is incremental,” said Robb Krumlauf, Ph.D., Scientific Director. “We learn a little bit at a time over many years, and each new discovery contributes to a more comprehensive understanding of a disease. This discovery by the Trainor Lab is what all of those years of hard work are about — ultimately learning enough to treat, cure, or prevent a devastating disease.”
“These meticulously performed experiments by members of the Trainor Lab and their colleagues elegantly demonstrate the power of science to address the cause and prevention of birth defects,” said William Neaves, Ph.D., President and CEO. “All of us at the Stowers Institute celebrate their landmark accomplishment.”
Marie Jennings | EurekAlert!
Bare bones: Making bones transparent
27.04.2017 | California Institute of Technology
Link Discovered between Immune System, Brain Structure and Memory
26.04.2017 | Universität Basel
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...
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...
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...
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...
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...
20.04.2017 | Event News
18.04.2017 | Event News
03.04.2017 | Event News
27.04.2017 | Life Sciences
27.04.2017 | Physics and Astronomy
27.04.2017 | Earth Sciences