Navigation Links
Trainor Lab prevents rare birth defect by inactivating p53 gene
Date:2/4/2008

Using a mouse model of Treacher Collins Syndrome (TCS), the Stowers Institutes Trainor Lab has demonstrated that it can prevent this rare disorder of craniofacial development either by inactivating a gene implicated in the abnormality or by inhibiting its protein product.

The work, which was posted to the Web site of the journal Nature Medicine yesterday, is a follow-up to the teams 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.


'/>"/>

Contact: Marie Jennings
mfj@stowers-institute.org
816-926-4015
Stowers Institute for Medical Research
Source:Eurekalert

Related medicine news :

1. Weekly dose of osteoporosis drug prevents bone loss after breast cancer treatment
2. Researchers at IRB Barcelona discover one of the mechanisms that prevents the spread of colon cancer
3. Guided radiation therapy for prostate cancer prevents damage to surrounding organs
4. Walking prevents bone loss caused from prostate cancer treatment
5. You can teach an old dog new tricks: anti-malarial prevents cancer in mice
6. Another Reason Not to Smoke While Pregnant: Birth Defects
7. More than two-thirds of sexually active NYC youth use condoms, but other forms of birth control lag
8. Glades General Hospital First in Palm Beach County to Provide On-Site Electronic Birth Registration
9. Steroids Seem Safe for Babies at Risk of Early Birth
10. Many U.S. Women Unaware of Birth Defect Risks
11. Moms Low Cholesterol Tied to Preemie Births
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... ... , ... PawPaws brand pet supplements owned by Whole Health Supply ... health of felines. The formula is all-natural and is made from Chinese herbs that ... Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root ...
(Date:6/25/2016)... ... , ... The temporary closing of Bruton Memorial Library on June 21 due to a possible ... often overlooked aspect of head lice: the parasite’s ability to live away from a human ... but a necessary one in the event that lice have simply gotten out of control. ...
(Date:6/25/2016)... ... ... On Friday, June 10, Van Mitchell, Secretary of the Maryland Department of ... recognition of their exemplary accomplishments in worksite health promotion. , The Wellness at Work ... Symposium at the BWI Marriott in Linthicum Heights. iHire was one of 42 businesses ...
(Date:6/24/2016)... ... , ... Marcy was in a crisis. Her son James, eight, was out of control. Prone ... physically. , “When something upset him, he couldn’t control his emotions,” remembers Marcy. “If ... at my other children and say he was going to kill them. If we ...
(Date:6/24/2016)... ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief Products, ... minimum wage raise to $12 an hour by 2020 and then adjusting it yearly to ... value of the minimum wage, assure the wage floor does not erode again, and make ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... SOUTH SAN FRANCISCO, Calif. , June 24, ... GBT ), a biopharmaceutical company developing novel ... with significant unmet needs, today announced the closing ... 6,400,000 shares of common stock, at the public ... the shares in the offering were offered by ...
(Date:6/24/2016)... BEIJING , June 24, 2016 Dehaier ... or the "Company"), which develops, markets and sells medical ... China , signed a strategic cooperation agreement with ... as "Hongyuan Supply Chain") on June 20, 2016, to ... Under the strategic cooperation agreement, Dehaier will leverage Hongyuan ...
(Date:6/24/2016)... , June 24, 2016 VolitionRx ... of Dr. Edward Futcher to the ... effective June 23, 2016.Dr. Futcher was also appointed ... Governance Committees.  As a non-executive member of the ... and strategic counsel to VolitionRx in connection with ...
Breaking Medicine Technology: