Navigation Links
UTHealth, French researchers discover gene defect for new syndrome
Date:7/9/2012

HOUSTON (July 9, 2012) Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

Genome-wide analysis of two unrelated families, one in the United States and one in France, identified mutations in transforming growth factor beta-2 (TGFB2), which plays a key role in the formation of cells in the walls of arteries. These changes can affect the ability of these cells that line the aorta and other blood vessels to function properly, leading to aortic aneurysms and dissections and intracranial aneurysms. Other systemic signs of the new syndrome include groin hernias, pectus deformities, joint hyperflexibility, mitral valve prolapse and skin stretch marks.

The findings were published in the July 8 online of the journal Nature Genetics. The French team included researchers from the Assistance Publique Hopitaux de Paris and the Institut National de la Sante et de la Recherche Medicle (INSERM).

"Identifying this gene as a cause of aortic and intracranial aneurysms can tell us who is at risk in a family before these aneurysms cause an acute aortic dissection or stroke," said Dianna Milewicz, M.D., Ph.D., professor, the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at the UTHealth Medical School. "If we know who is at risk, we can prevent these life-threatening complications of these aneurysms before they occur and prevent premature death or disability."

Milewicz is the senior author of the paper, a multi-institutional collaboration. The lead author is Catherine Boileau of INSERM.

Incorrect function of the cells can cause a weakness in the wall of the t
'/>"/>

Contact: Deborah Mann Lake
deborah.m.lake@uth.tmc.edu
713-500-3030
University of Texas Health Science Center at Houston
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Tattoos, Piercings Tied to Heavier Drinking in French Study
2. NIH awards $20 million over 5 years to train next generation of global health researchers
3. Researchers develop a new cell and animal model of inflammatory breast cancer
4. Researchers uncover a viable way for colorectal cancer patients to overcome drug resistance
5. Researchers Find Gene Mutations That May Be a Key to Autism
6. Researchers find evidence of banned antibiotics in poultry products
7. NJ stroke researchers report advances in spatial neglect research at AAN Conference
8. Autism by the numbers: Yale researchers examine impact of new diagnostic criteria
9. Researchers Map Brain Regions Linked to Intelligence
10. Researchers ID Genes That May Determine Mental Illness
11. Researchers Develop Blood Test for Depression
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/22/2015)... Portland, OR (PRWEB) May 22, 2015 ... world, remains at the forefront of designing with reclaimed ... on Design in Los Angeles, California. Their newest offerings, ... will bring much-anticipated surface and color to America's largest ... pack our exhibit at each show, anxious to see ...
(Date:5/22/2015)... (PRWEB) May 22, 2015 Mountain Point Medical ... a ribbon cutting ceremony on Friday, May 29, 2015 at ... to 6 p.m. The new medical center, set to officially ... Triumph Boulevard, Lehi, UT 84043. , “The opening of ... team and the Utah County community,” said Kent Loosle, CEO ...
(Date:5/22/2015)... (PRWEB) May 22, 2015 Hundreds ... on behalf of individuals who allegedly experienced serious ... use continue to move forward in the U.S. ... a Pretrial Order dated May 4, 2015, the ... documents and electronically stored information. Among other things, ...
(Date:5/22/2015)... 2015 Omar Ahmad Barrada, a junior ... in the 2015 Congress of Future Medical Leaders in ... gathering of “America’s highest achieving high school students.” , ... set new goals and learn better study habits,” said ... during which we can ask the surgeons questions.” , ...
(Date:5/22/2015)... Hands On HealthCare Massage Therapy and Wellness ... Annual One Day Sale on Massage and Facial Gift ... drastically reduced certificates one day a year. This sale ensures ... what used to be the slowest time of the year, ... well. This once a year occurrence has become a Commack ...
Breaking Medicine News(10 mins):Health News:Pioneer Millworks to Reveal New Design Trends with Reclaimed Wood at Dwell on Design in LA 2Health News:Pioneer Millworks to Reveal New Design Trends with Reclaimed Wood at Dwell on Design in LA 3Health News:Mountain Point Medical Center, a Campus of Jordan Valley Medical Center, Hosts Ribbon Cutting Ceremony and Community Celebration on Friday, May 29, 2015 2Health News:Court Overseeing Federal Xarelto Lawsuits Establishes Procedures Governing Preservation of Documents, Electronically Stored Information 2Health News:Court Overseeing Federal Xarelto Lawsuits Establishes Procedures Governing Preservation of Documents, Electronically Stored Information 3Health News:Court Overseeing Federal Xarelto Lawsuits Establishes Procedures Governing Preservation of Documents, Electronically Stored Information 4Health News:Milton Hershey School Student Chosen for Congress of Future Medical Leaders 2Health News:Hands On HealthCare Massage Therapy & Wellness Day Spa Announces Their Eighth Annual One Day Sale on Gift Certificates Will Take Place on June 17, 2015 2Health News:Hands On HealthCare Massage Therapy & Wellness Day Spa Announces Their Eighth Annual One Day Sale on Gift Certificates Will Take Place on June 17, 2015 3
... HealthDay Reporter , TUESDAY, Sept. 14 (HealthDay News) ... are more likely than their non-depressed counterparts to think ... more likely to believe that mentally ill students like ... Dr. Thomas L. Schwenk, a professor at the University ...
... is well known that exposure to radiation has multiple harmful ... has been unclear to what extent such exposure increases a ... first large-scale study of the relationship between radiation dose and ... and Nagasaki, Japan reveals a similar risk in the development ...
... A collaboration led by a periodontal researcher from the ... a possible link between the success of gum-disease treatment ... a study published in the journal BJOG: An ... a number of factors are associated with an increased ...
... HealthDay Reporter , TUESDAY, Sept. 14 (HealthDay News) -- ... to get where they are today, they find it easier to ... finds. While efforts to trim the number of these ... trips -- have made inroads over the past few years, conflicts ...
... findings from the Universit de Montral reveals that children ... use irony. This study, published recently in the British ... communicate with their family. "Previous studies concluded that ... ten," says Stephanie Alexander, a postdoctoral student at the ...
... Health has awarded a three-year, $1.1 million grant to a ... National Laboratory to develop a technology for studying the link ... in or on the human body. The grant is ... a $42 million expansion of the Human Microbiome Project. The ...
Cached Medicine News:Health News:Depressed Med Students Seem to Fear Stigma More Than Most 2Health News:Depressed Med Students Seem to Fear Stigma More Than Most 3Health News:Radiation exposure poses similar risk of first and second cancers in atomic bomb survivors 2Health News:Successful periodontal therapy may reduce the risk of preterm birth, according to Penn dental study 2Health News:Notions of Personal 'Sacrifice' Help Docs Take Gifts From Industry 2Health News:Notions of Personal 'Sacrifice' Help Docs Take Gifts From Industry 3Health News:Notions of Personal 'Sacrifice' Help Docs Take Gifts From Industry 4Health News:New research technology to target human gut bacteria 2
(Date:5/21/2015)... May 21, 2015 ... announced the addition of the "North ... Replacement, Digit Replacement, Elbow Replacement, Hip Replacement, ... 2019" report to their offering. ,     ... replacement was valued at $4,470.9 million in ...
(Date:5/21/2015)... 21, 2015 Research and ... of the "Market Assessment of Respiratory Diagnostics ... to their offering. ,     (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , ,This ... imaging diagnostics market in the United ... . The service provides detailed analysis of the ...
(Date:5/21/2015)... Calif. , May 21, 2015  Cardica, Inc. (Nasdaq: ... new employee Greg Watson , the company,s vice president ... of the company,s common stock, at a per share exercise ... 2015. The stock option was granted pursuant to Cardica, Inc.,s ... directors in May 2015 under Rule 5653(c)(4) of the Nasdaq ...
Breaking Medicine Technology:North American Joint Reconstruction Market 2015-2019 - Zimmer Holdings, DePuy Synthes Companies, Stryker, Biomet & Smith & Nephew Dominates the $4.4 Billion Market 2United States and Europe Respiratory Diagnostics Market Assessment 2015 2Cardica Announces New Employment Inducement Grant 2
... Systems Inc.,(Amex: PLC ) today reported that it has ... System(TM) and Therapy with the U.S. Food,and Drug Administration. Based ... and its discussions with FDA, PLC has stopped,enrolling new patients ... into a new pivotal trial protocol., The pilot trial ...
... ,Change Me, Initiative Raised Worldwide Awareness and Funds ... to Fight Aids, Tuberculosis and Malaria, ... leading imagery creator and distributor, today announced,the successful conclusion of ... images to share their thoughts on how to make the,world ...
Cached Medicine Technology:PLC Systems Achieves Successful Early Conclusion of RenalGuard(TM) Pilot Safety Trial 2PLC Systems Achieves Successful Early Conclusion of RenalGuard(TM) Pilot Safety Trial 3Getty Images Celebrates Conclusion of 'Change Me' Imagery Forum 2Getty Images Celebrates Conclusion of 'Change Me' Imagery Forum 3
... 2000 incorporates a full ... programs in precisely evaluating ... is a full-function, state-of-art ... efficient acquisition, storage, retrieval ...
Nidek LM-990A accomplishes precise measurement, quick response and easy operation....
Autolensmeter with black/white monitor and no internal printer....
... TL-3000B Auto Lensmeter is designed for fast & ... makes it easier to operate for everyone., ,In ... the lens is properly aligned. Multi-Focal lenses are ... you to correctly position the lens. The color ...
Medicine Products: