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:12/9/2016)... (PRWEB) , ... December 09, 2016 , ... The ... Drug Dependence, Inc. (NCADD) is recommending the film Whispering Spirits and ... the District of Columbia as an education tool in the war against teen drug ...
(Date:12/9/2016)... ... December 09, 2016 , ... Mediaplanet today announces distribution of the latest ... readers to sign up as an organ donor for the 123,000 people in the ... organ donor can save up to 8 saves through organ donation and enhance many ...
(Date:12/9/2016)... (PRWEB) , ... December 09, 2016 , ... "I had ... an inventor from Winchester, Va. "I thought that if the nebulizer had a more ... rather than fearing them." , He developed the patent-pending NEBY to avoid the need ...
(Date:12/8/2016)... ... 08, 2016 , ... The Florida Hospital Tampa Wound Healing ... Society (UHMS), the leading authority in hyperbaric medicine. This accreditation identifies the Institute ... and facilities have earned this distinction. This is the second time the Florida ...
(Date:12/8/2016)... ... 2016 , ... ZyDoc , a New York-based medical ... Capture Methods for Input to Electronic Health Records: A Comparative Usability Study” has ... usability study demonstrate that a dictation-based method (“NLP Entry”) using ZyDoc’s MediSapien™ natural ...
Breaking Medicine News(10 mins):
(Date:12/9/2016)... Research and Markets has announced the addition of ... offering. ... report forecasts the global optical transceiver market to grow at a ... report covers the present scenario and the growth prospects of the ... the report considers the revenue generated from the shipment of optical ...
(Date:12/9/2016)...  Harmar Mobility, LLC announced today that Steven E. Dawson has been ... of Directors. Photo - http://photos.prnewswire.com/prnh/20161209/447552 ... Harmar ... Mr. Dawson,s executive career includes leadership roles managing ... of industries. He brings to the company deep operational and leadership expertise, ...
(Date:12/9/2016)... aTyr Pharma, Inc. (Nasdaq: LIFE ), a ... to address severe, rare diseases, today announced that senior management will ... Success Healthcare Conference at the InterContinental Barclay Hotel in ... 4:20 p.m. ET. About aTyr Pharma ... aTyr Pharma is engaged ...
Breaking Medicine Technology: