Navigation Links
Case Western Reserve University uncovers genetic basis for some birth defects
Date:11/10/2008

CLEVELAND November 10, 2008 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.


'/>"/>

Contact: Christina Thompson
christina.a.thompson@case.edu
216-368-3635
Case Western Reserve University
Source:Eurekalert  

Related biology news :

1. Western diet linked to increased risk of colon cancer recurrence
2. UT Southwestern researchers identify hundreds of genes controlling female fertility
3. Northwestern to expose most deadly infectious diseases in 3-D
4. Northwestern study looks at sensing, movement and behavior
5. Tiny dust particles from Asian deserts common over western United States
6. Threatened bird species finds home at Western
7. BMI criteria for obesity surgery should be lowered, UT Southwestern researcher suggests
8. UT Southwestern secures $5 million NIH grant for lupus research
9. UT Southwestern scientist honored among best in Texas research
10. Western Groundfish Conference to be held in Santa Cruz on Feb. 4-8
11. Stem-cell transplantation improves muscles in MD animal model, UT Southwestern researchers report
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Case Western Reserve University uncovers genetic basis for some birth defects
(Date:6/7/2016)... -- Syngrafii Inc. and San Antonio Credit Union (SACU) ... Syngrafii,s patented LongPen™ eSignature "Wet" solution into SACU,s ... in greater convenience for SACU members and operational ... document workflow and compliance requirements. Logo ... Highlights: ...
(Date:6/1/2016)... Favorable Government Initiatives Coupled With ... Identification to Boost Global Biometrics System Market Through 2021  ... report, " Global Biometrics Market By Type, By ... 2011 - 2021", the global biometrics market is projected ... of growing security concerns across various end use sectors ...
(Date:5/9/2016)... UAE, May 9, 2016 Elevay ... comes to expanding freedom for high net worth professionals ... in today,s globally connected world, there is still no ... could ever duplicate sealing your deal with a firm ... passports by taking advantage of citizenship via investment programs ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... , June 24, 2016 Epic ... sensitively detects cancers susceptible to PARP inhibitors by ... tumor cells (CTCs). The new test has already ... therapeutics in multiple cancer types. Over ... DNA damage response pathways, including PARP, ATM, ATR, ...
(Date:6/24/2016)... ... June 24, 2016 , ... Researchers at the Universita Politecnica delle ... people with peritoneal or pleural mesothelioma. Their findings are the subject of a new ... , Diagnostic biomarkers are signposts in the blood, lung fluid or tissue of mesothelioma ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... to announce the launch of their brand, UP4™ Probiotics, into Target stores nationwide. ... years, is proud to add Target to its list of well-respected retailers. This ...
(Date:6/23/2016)... , June 23, 2016 /PRNewswire/ - FACIT ... Ontario biotechnology company, Propellon Therapeutics ... development and commercialization of a portfolio of first-in-class ... Epigenetic targets such as WDR5 represent an exciting ... significantly in precision medicine for cancer patients. Substantial ...
Breaking Biology Technology: