Study Identifies Gene That Leads To Several Birth Defects

by VR Sreeraman on November 12, 2008 at 5:07 PM
 Study Identifies Gene That Leads To Several Birth Defects

A multidisciplinary research team at Case Western Reserve University in America has uncovered a gene the absence of which may lead to a number of birth defects, which affect the development of the heart and head.

Dr. Gary Landreth, a professor in the School of Medicine's Department of Neurosciences, says that abnormal development of the jaw, palate, brain and heart occur due to genetic errors that affect a key developmental pathway.


He joined forces with Dr. William Snider at the University of North Carolina to create a mouse model of such disorders, by removing a gene called ERK2.

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.

Another researcher called Dr. Michiko Watanabe, a professor of Pediatrics, looked at the mouse hearts and 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. This work sheds light on how these developmental errors occur," said Landreth.

Dr. Sulagna Saitta, a human geneticist at Children's Hospital of Philadelphia, had previously shown that children with comparable heart defects and subtle facial differences were all missing a very small region of chromosome 22, which contained the ERK2 gene.

She agreed that ERK2 and its pathway members were essential for normal development, and that any irregularity might lead to birth defects.

The new findings attain significance as they 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 are currently planning to study why cells need ERK2 during embryogenesis.

Source: ANI
Font : A-A+



Recommended Readings

Latest Research News

South Korea's 2050 Forecast: Negative Growth Amid Low Fertility
South Korea's total fertility rate, averaging the number of children a woman aged 15-49 has in her lifetime, dropped to 0.81.
New Immunotherapy for Psoriasis & Vitiligo
Scientists identified mechanisms governing immune cells, selectively removing troublemakers to reshape skin immunity. Benefits those with psoriasis, vitiligo.
2050 Forecast: 1.06 Billion Individuals to Face 'Other' Musculoskeletal Disorders
By 2050, an anticipated increase from 494 million cases in 2020 to 1.06 billion people with musculoskeletal disabilities is expected.
Gene Therapies Can Disrupt Gaucher Disease Drug Market
Experts consulted by GlobalData anticipate a significant overhaul in the Gaucher disease scenario because of forthcoming gene therapies in development.
NASH Cases Expected to Hit 26.55 Million in 7MM by 2032
Within the seven major markets, 12% to 20% of diagnosed prevalent NASH cases present severe liver damage (stage 4 liver fibrosis), denoting cirrhosis.
View All
This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close

Study Identifies Gene That Leads To Several Birth Defects Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests