Navigation Links
New Gene ID'd in Brittle Bone Disease
Date:1/20/2010

Discovery may shed light on origin of osteogenesis imperfecta, researchers say

WEDNESDAY, Jan. 20 (HealthDay News) -- A new gene involved in a recessive form of brittle bone disease has been pinpointed by researchers.

The gene is the third to be identified in a sequence of genes involved in previously unexplained forms of osteogenesis imperfecta, a sometimes fatal genetic condition that weakens bones, resulting in frequent fractures.

The new gene, discovered by U.S. National Institutes of Health researchers and their colleagues, is involved in the production of Cyclophilin B, which is part of a complex of three proteins that folds collagen into a precise molecular configuration before it's secreted from cells.

Collagen acts as the molecular scaffolding that holds together bone, tendons, skin and other tissues.

Most types of osteogenesis imperfecta are the result of a dominant mutation in collagen itself, requiring only one copy of the mutated gene to cause the condition, the researchers explained in an NIH news release. Osteogenesis imperfecta involving the Cyclophilin B gene is a recessive trait, requiring two defective copies of the gene to cause the disorder.

Identification of this new gene "provides insight into a previously undescribed form of osteogenesis imperfecta. The advance also provides new information on how collagen folds during normal bone formation, which may also lead to greater understanding of other bone disorders," Dr. Alan E. Guttmacher, acting director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development, said in the news release.

The study is published in the Jan. 20 issue of the New England Journal of Medicine.

More information

The American Academy of Orthopaedic Surgeons has more about osteogenesis imperfecta.



-- Robert Preidt



SOURCE: U.S. National Institutes of Health, news release, Jan. 20, 2010


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Do Antidepressants Make Bones Brittle?
2. Stem cell treatment for brittle bones in the womb
3. Even Mild Lung Disease Affects the Heart
4. Identified: Switch that turns on allergic disease in people
5. Cholesterol-Lowering Drug Shows Promise Against Serious Infections in Sickle Cell Disease
6. Compounds Identified That Might Treat Nerve Diseases
7. Erectile Dysfunction Predicts Heart Disease
8. CARE Works With Women in Haiti to Keep Disease at Bay
9. Researchers find new insights into inherited retinal disease
10. Moderate Radiation Tied to Heart Disease, Stroke
11. Kidney-disease drug with Dartmouth origins licensed in Asia
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... (PRWEB) , ... June 27, 2016 , ... ... for mental health professionals, announced today its affiliation with Tennessee Counseling Association. ... solutions to the network of the Tennessee Counseling Association, adding exclusive benefits and ...
(Date:6/26/2016)... (PRWEB) , ... June 27, 2016 , ... Quality metrics ... yet in many ways they remain in the eye of the beholder, according to ... a publication of The American Journal of Managed Care. For the full issue, ...
(Date:6/26/2016)... (PRWEB) , ... June 26, 2016 , ... Brent Kasmer, a legally blind and certified ... be personalized through a fitness app. The fitness app plans to fix the two major ... only offer a one size fits all type program , They don’t eliminate ...
(Date:6/25/2016)... ... ... temporary closing of Bruton Memorial Library on June 21 due to a possible lice infestation, ... aspect of head lice: the parasite’s ability to live away from a human host, and ... necessary one in the event that lice have simply gotten out of control. , As ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin Johnson has ... he has implemented orthobiologic procedures as a method for treating his patients. The ... first doctors to perform the treatment. Orthobiologics are substances that orthopaedic surgeons use ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Bracket , ... launch its next generation clinical outcomes platform, Bracket eCOA (SM) ... held on June 26 – 30, 2016 in ... first electronic Clinical Outcome Assessment product of its kind to ... #715. Bracket eCOA 6.0 is a flexible platform ...
(Date:6/23/2016)... INDIANAPOLIS , June 23, 2016 /PRNewswire/ ... Diabetes Tomorrow,s Leaders Scholarship is any indication, the future ... today online at www.diabetesscholars.org by the Diabetes ... stand in the way of academic and community service ... scholarship program since 2012, and continues to advocate for ...
(Date:6/23/2016)... -- Revolutionary technology includes multi-speaker listening to ... leaders in advanced audiology and hearing aid technology, has ... the world,s first internet connected hearing aid that opens ...      (Photo: http://photos.prnewswire.com/prnh/20160622/382240 ) , ... firsts,: , TwinLink™ - the first dual ...
Breaking Medicine Technology: