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:10/13/2017)... ... October 13, 2017 , ... The American Board of Family ... next President and Chief Executive Officer, succeeding Dr. James C. Puffer upon his retirement. ... 1, 2018 until Dr. Puffer’s retirement at the end of 2018. Upon assuming the ...
(Date:10/13/2017)... , ... October 13, 2017 , ... Apple Rehab ... services, staged a mock evacuation of the facility as part of a disaster drill ... Department, Echo Hose EMS and Shelton City Emergency Manager, as well as the ...
(Date:10/13/2017)... ... October 13, 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The House ... most popular and least understood books in the Holy Scriptures, Revelation. The Book of ... baffled scholars for centuries. Many have tossed it off as mere rubbish, but Yisrayl ...
(Date:10/12/2017)... ... October 12, 2017 , ... First Healthcare Compliance (FHC), ... will showcase a range of technology and learning solutions at the 68th Annual ... Expo to be held October 14–18, 2017 at the Mandalay Bay Resort in ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... The American ... Excellence to Carol Friedman, PhD, FACMI, during the Opening Session of AMIA’s Annual Symposium ... 8. , In honor of Morris F. Collen, a pioneer in the field of ...
Breaking Medicine News(10 mins):
(Date:10/12/2017)... DIEGO , Oct. 12, 2017 AVACEN ... recognized the company with their  2017 New Product Innovation Award ... based on extensive primary and secondary medical device market research ... Medical, through its first-to-market OTC, drug-free pain relief product, the ... unique approach to treating fibromyalgia widespread pain. ...
(Date:10/11/2017)... Texas , Oct. 11, 2017  True ... services, has amplified its effort during National Breast ... about hereditary cancer risks. ... of Clinical Oncology calculated that more than 10 ... have inherited mutations in BRCA1 or BRCA2 and have ...
(Date:10/5/2017)... Ill. , Oct. 5, 2017  In ... Association of Oral and Maxillofacial Surgeons (AAOMS) released ... opioids – to be used as a first-line ... pain. Recognizing ... the AAOMS White Paper "Opioid Prescribing: Acute and ...
Breaking Medicine Technology: