Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Case Western Reserve University uncovers genetic basis for some birth defects

12.11.2008
Absence of ERK2 Gene linked to birth defects

A multidisciplinary research team at Case Western Reserve University led by Gary Landreth, Ph.D., a professor in the School of Medicine's Department of Neurosciences, has uncovered a common genetic pathway for a number of birth defects that affect the development of the heart and head. Abnormal development of the jaw, palate, brain and heart are relatively common congenital defects and frequently arise due to genetic errors that affect a key developmental pathway.

The research, titled "Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development" is published in the November 10 issue of the Proceedings of the National Academy of Sciences of the United States of America.

Landreth, also the senior author of the study, developed a mouse model of these disorders by removing a gene central to this developmental pathway, called ERK2. He, together with Dr. William Snider at the University of North Carolina, discovered that the mice missing the gene for ERK2 in neural crest cells had developmental defects resembling those of human patients with a deletion that includes this gene. The patients have features that are similar to DiGeorge syndrome, which is associated with cardiac and palate defects. Interestingly, the ERK2 gene is central to a well-known pathway already associated with a different distinct group of cardiac and craniofacial syndromes that include Noonan, Costello, Cardiofaciocutaneous syndrome, and LEOPARD syndrome.

Landreth enlisted the help of Michiko Watanabe, Ph.D., professor of Pediatrics at Case Western Reserve University School of Medicine to look at the mouse hearts. She and her team found that they had characteristic heart defects resembling those seen in the patients with ERK2 deletions.

"Given Dr. Watanabe's findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome," said Landreth. "This work sheds light on how these developmental errors occur."

Remarkably, Dr. Sulagna Saitta, a human geneticist at Children's Hospital of Philadelphia had identified children who had comparable heart defects as well as subtle facial differences. These children were all missing a very small region of chromosome 22 that contained the ERK2 gene.

Saitta agreed that the similarity in the anatomic structures affected in the mice and those in the patients who have lost one copy of this gene suggest that ERK2 and its pathway members are essential for normal development and might lead to these birth defects. These findings link together several distinct syndromes that are each characterized by cardiac and craniofacial abnormalities and show that they can result from perturbations of the ERK cascade.

Landreth and his team will take these findings back to the lab and find out exactly why cells need ERK2 during embryogenesis.

Funding was provided by the National Institutes of Health, the National Science Foundation, the National Heart Lung Blood Institue and a National Research Service Award.

To access the full study go to Proceedings of the National Academy of Sciences of the United States of America Web site: http://www.pnas.org/content/early/2008/10/23/0805239105.abstract?sid=15b66c02-fef5-4cc5-a1da-472459fa7f2c

About Case Western Reserve University School of Medicine

Founded in 1843, Case Western Reserve University School of Medicine is the largest medical research institution in Ohio and 15th largest among the nation's medical schools for research funding from the National Institutes of Health. Eleven Nobel Laureates have been affiliated with the school.

The School of Medicine is recognized throughout the international medical community for outstanding achievements in teaching and in 2002, became the third medical school in history to receive a pre-eminent review from the national body responsible for accrediting the nation's academic medical institutions. The School's innovative and pioneering Western Reserve2 curriculum interweaves four themes--research and scholarship, clinical mastery, leadership, and civic professionalism--to prepare students for the practice of evidence-based medicine in the rapidly changing health care environment of the 21st century.

Annually, the School of Medicine trains more than 600 M.D. and M.D./Ph.D. students and ranks in the top 25 among U.S. research-oriented medical schools as designated by U.S. News and World Report Guide to Graduate Education. The School of Medicine's primary clinical affiliate is University Hospitals and is additionally affiliated with MetroHealth Medical Center, the Louis Stokes Cleveland Department of Veterans Affairs Medical Center, and the Cleveland Clinic Foundation, with which it established the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University in 2002.

Christina Thompson | EurekAlert!
Further information:
http://www.case.edu
http://casemed.case.edu

More articles from Interdisciplinary Research:

nachricht Fighting myocardial infarction with nanoparticle tandems
04.12.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht Virtual Reality for Bacteria
01.12.2017 | Institute of Science and Technology Austria

All articles from Interdisciplinary Research >>>

The most recent press releases about innovation >>>

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

Im Focus: First-of-its-kind chemical oscillator offers new level of molecular control

DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.

Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Engineers program tiny robots to move, think like insects

15.12.2017 | Power and Electrical Engineering

One in 5 materials chemistry papers may be wrong, study suggests

15.12.2017 | Materials Sciences

New antbird species discovered in Peru by LSU ornithologists

15.12.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>