Navigation Links
Researchers discover new gene responsible for brittle bone disease

A team of researchers has identified a new genetic mutation responsible for osteogenesis imperfecta (OI), a condition that makes bones much more likely to break, according to a study published today in the journal Cell.

Victims may experience just a few fractures in a lifetime or several hundred beginning before birth. The number of Americans affected is unknown, but estimates range from 20,000 to 50,000. While the study is an important early step in the search for a cure, its immediate effect may be to exonerate an expanded group of parents whose children frequently appear in emergency rooms with unexplained fractures, and who may be accused of child abuse.

The study was led by Brendan Lee, M.D., Ph.D., associate professor of Molecular and Human Genetics at the Baylor College of Medicine. Brendan Boyce, M.D. professor of Pathology at the University of Rochester Medical Center, added expertise to the large, international research team in the analysis of skeletal defects caused by lack of effective function in the newly discovered gene.

Previously, OI was known only as a genetic disorder in the formation of collagen fibers, the protein framework of which bone and cartilage are built. People with OI were known to have a faulty gene that instructed their bodies to make either too little or weak collagen because of defects or mutations in one of the collagen genes, of which there are more than 20. The current study found a new gene, that when mutated, reduces the ability of a protein involved in collagen formation, called CRTAP (cartilage-associated protein), to guide collagen production as it forms the proper framework of bone.

"The study is important because it clarifies a new mechanism by which the OI can occur and makes possible new tests to identify affected children and provide them with added medical support," Boyce said. "There may be up to 15 percent of children with Brittle Bone Disease who have mutations related to th
'"/>

Source:University of Rochester Medical Center


Page: 1 2 3

Related biology news :

1. Researchers discover way to make cells in the eye sensitive to light
2. Researchers find how protein allows insects to detect and respond to pheromones
3. Researchers Uncover Key Step In Manufacture of Memory Protein
4. Researchers reveal the infectious impact of salmon farms on wild salmon
5. Researchers identify target for cancer drugs
6. Researchers discover molecule that causes secondary stroke
7. Researchers find missing genes of ancient organism
8. Researchers trace evolution to relatively simple genetic changes
9. Researchers add new tool to tumor-treatment arsenal
10. UF Researchers Map Bacterial Proteins That Cause Tooth Loss
11. VCU Researchers Identify Networks Of Genes Responding To Alcohol In The Brain
Post Your Comments:
(Date:9/19/2014)... that legume plants regulate their symbiotic relationship with ... transmitted through the plant structure from leaves into ... nodules in the roots. This collaborative study was ... Basic Biology, the Graduate University for Advanced Studies ... Science in Japan. , Legumes, an important ...
(Date:9/18/2014)... in the primitive brainstem has revealed how we fall ... of Medicine and the University at Buffalo School of ... "sleep node" identified in the mammalian brain whose activity ... deep sleep. , Published online in August in ... of all of the brain,s sleep-promoting activity originates from ...
(Date:9/18/2014)... can operate inside the bore of an MRI scanner ... research partnership program at Brigham and Women,s Hospital in ... in conjunction with real-time MRI images, can make prostate ... discomforting for the patient. The novel system also has ... precision. , Developed by a team of robotics engineers ...
Breaking Biology News(10 mins):For legume plants, a new route from shoot to root 2No sedative necessary: Scientists discover new 'sleep node' in the brain 2Trial begins for MRI-compatible robot designed to improve accuracy of prostate biopsies 2Trial begins for MRI-compatible robot designed to improve accuracy of prostate biopsies 3Trial begins for MRI-compatible robot designed to improve accuracy of prostate biopsies 4Trial begins for MRI-compatible robot designed to improve accuracy of prostate biopsies 5
... A new report published by an independent global ... system needs an immediate transformation to meet current and ... The Commission on Sustainable Agriculture and Climate Change today ... policy responses to the global challenge of feeding the ...
... 2011 For the first time, researchers have ... of the enzymes involved in degrading persistent pollutants ... Professor Michel Sylvestre of Centre INRSInstitut Armand-Frappier in ... not only to help develop effective biocatalysts for ...
... (University of Turku and VTT Technical Research Centre of Finland) ... Institute for Health and Welfare) have discovered that the SHARPIN ... leading journal, the study concludes that SHARPIN regulates the movement ... cancer cells. It is likely that the discovery will also ...
Cached Biology News:Global commission delivers food security policy recommendations 2Global commission delivers food security policy recommendations 3
(Date:9/19/2014)... NC (PRWEB) September 19, 2014 ... Biobased Product Label for its Organic Cotton . ... product’s amount of renewable biobased ingredients meets or exceeds ... intermediate materials composed in whole or in significant part ... logo/label will allow our Organic cotton to be immediately ...
(Date:9/19/2014)... The new , Healthcare and Life Sciences Review ... PharmaBoardroom.com for free download , looks beyond ... economy in 2009, and the austerity measures that followed, to ... times of trouble. "Despite the crisis, ... and the general conditions to invest are favorable to the ...
(Date:9/18/2014)... DALLAS , Sept. 18, 2014 /PRNewswire-iReach/ -- ... and China Acetic Acid Industry" and "2014 Deep ... Industry" reports to its research database. ... 2014 Deep Research Report on Global and China ... research report on China ...
(Date:9/18/2014)... Texas (PRWEB) September 18, 2014 ... Chancellor John Sharp, Texas A&M Health Science Center ... U.S. Department of Health and Human Services (HHS), ... dedicated a national pandemic influenza vaccine manufacturing facility ... as an anchor for the Texas A&M Biocorridor ...
Breaking Biology Technology:Barnhardt Manufacturing Company Earns USDA Certified Biobased Product Certification and Label for Organic Cotton 2PharmaBoardroom Releases New Spain Pharmaceuticals Report 2PharmaBoardroom Releases New Spain Pharmaceuticals Report 3Acetic Acid Market & Sodium Stannate Industry (China, Global) Research Report 2Acetic Acid Market & Sodium Stannate Industry (China, Global) Research Report 3Acetic Acid Market & Sodium Stannate Industry (China, Global) Research Report 4Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 2Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 3Texas A&M Dedicates National Pandemic Influenza Vaccine Manufacturing Facility, on Track for 2016 Start-Up Phase 4
... Advanced Biofuels, LLC, a joint venture between BP ... into collaboration with Fagen, Inc. for the introduction ... is the world,s most experienced biofuels engineering, procurement ... than any other company.  They are the largest, ...
... Exciting new data presented today at the ... role in the development of diabetes and non-alcoholic fatty ... . Though an early stage animal model, the French ... with gut microbiota transplantation - the engrafting of new ...
... , Luis Montaner from the Wistar Institute, Philadelphia, USA ... model to a cohort of HIV-infected patients on antiretroviral ... be used to optimize laboratory capacity in settings where ... is not intended to replace CD4 count testing or ...
Cached Biology Technology:Butamax™ and Fagen Announce Collaboration to Retrofit Ethanol Plants for Biobutanol Production 2Gut Microbiota Transplantation may Prevent Development of Diabetes and Fatty Liver Disease 2Gut Microbiota Transplantation may Prevent Development of Diabetes and Fatty Liver Disease 3
... siSolutions siRNA Custom Synthesis ... effective duplex RNA to knockdown ... 21-mers (19 RNA base pairs ... recently-published 27-mers, or other lengths ...
EDG-1 Western blot control Source: Cell Lysate Application: Western Blotting Control...
Hybridization cassette for one slide...
Request Info...
Biology Products: