Genetic mutation explains form of brittle bone disease

A newly identified gene mutation helps explain a subset of cases of osteogenesis imperfecta (OI), or brittle bone disease, whose origin had until now remained mysterious. Identifying the new mutation is important because children with the disorder, whose bones break easily, are sometimes mistaken as victims of child abuse particularly those who do not carry the genetic mutation known to cause most cases of brittle bone disease.

Most cases of brittle bone disease are known to be caused by a structural change in a particular collagen protein. The new mutation responsible for up to 15 percent of cases acts differently and prevents collagen proteins from being properly modified after they are produced. The finding may also offer clues to the causes of as-yet-undescribed connective tissue diseases that may affect other parts of the body and gives insight into the basic mechanism of collagen formation, said the researchers.

In an article published in the October 20, 2006, issue of the journal Cell, Howard Hughes Medical Institute investigator Brendan Lee and his colleagues reported how mutations in a gene called cartilage-associated protein (CRTAP) can affect bone formation. Lee and his colleagues at the Baylor College of Medicine collaborated on the studies with researchers from Istituto Nazionale per la Ricerca sul Cancro in Italy, Shriners Hospital for Children in Canada, McGill University, Oregon Health & Science University, the University of Washington, and the University of Rochester Medical Center.

The long protein fibrils that make up collagen serve as a principal support for skin, tendon, bone, cartilage and connective tissue. Immediately after the collagen protein is manufactured by cells, it undergoes several biochemical modifications to transform it into functional fibers. One of the least understood of these modifications is the addition of a molecular unit called a hydroxyl group to the collagen protein. This

Contact: Jennifer Michalowski
Howard Hughes Medical Institute

Page: 1 2 3

Related biology news :

1. Genetic variation helps to understand predisposition to schizophrenia
2. Genetic factors strongly shape how peers are chosen
3. Genetic analysis finds greater threat in frog-killing fungus
4. Genetic diversity in honeybee colonies boosts productivity
5. 2007-2008 Genzyme/ACMGF Clinical Genetics Fellowship In Biochemical Genetics award winner announced
6. Maynard Olson receives $500,000 Gruber Genetics Prize
7. Genetic defect links respiratory disease and congenital heart disease
8. Cell Press announces new partnership with the American Society of Human Genetics
9. Genetic fellow traveler discovered in Alzheimers
10. Genetic roots of bipolar disorder revealed by first genome-wide study of illness
11. Health disparities -- Genetics, society and race play an important role in access to healthcare

Post Your Comments:

(Date:11/26/2015)... -- Research and Markets ( http://www.researchandmarkets.com/research/jwkl9t/capacitive ) has announced ... Technology and Patent Infringement Risk Analysis" report to ... --> Fingerprint sensors using capacitive technology represent a ... vendor Idex forecasts an increase of 360% of the ... of the fingerprint sensor market between 2014 and 2017 ...
(Date:11/19/2015)... VIEW, Calif. , Nov. 19, 2015  Based ... market, Frost & Sullivan recognizes BIO-key with the 2015 ... Leadership. Each year, Frost & Sullivan presents this award ... product line catering to the needs of the market ... the product line meets and expands on customer base ...
(Date:11/18/2015)... , Nov. 18, 2015  As new scientific ... children, doctors and other healthcare providers face challenges in ... families and patients. In addition, as more children continue ... a patient,s adulthood and old age. John ... The Children,s Hospital of Philadelphia (CHOP) . ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... SAN DIEGO , Nov. 25, 2015  Neurocrine ... Kevin Gorman , President and CEO of Neurocrine ... Jaffray Healthcare Conference in New York ... encouraged to visit the website approximately 5 minutes prior ... software.  A replay of the presentation will be available ...
(Date:11/25/2015)... ... November 25, 2015 , ... A long-standing ... Aerospace Professionals (OPBAP) has been formalized with the signing of a Memorandum of ... with OPBAP leaders Capt. Karl Minter and Capt. Albert Glenn Tuesday, November 24, ...
(Date:11/25/2015)... 25, 2015 The Global ... a professional and in-depth study on the current ... (Logo: http://photos.prnewswire.com/prnh/20141014/710132 ) , The ... including definitions, classifications, applications and industry chain structure. ... international markets including development trends, competitive landscape analysis, ...
(Date:11/24/2015)... , Nov. 24, 2015  Asia-Pacific (APAC) holds ... organisation (CRO) market. The trend of outsourcing to ... margins but higher volume share for the region ... scale, however, margins in the CRO industry will ... Market ( http://www.frost.com/sublib/display-report.do?id=P86A-01-00-00-00&src=PR ), finds that the ...
Breaking Biology Technology:
Cached News: