HOME >> BIOLOGY >> NEWS
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
michalow@hhmi.org
301-215-8576
Howard Hughes Medical Institute
19-Oct-2006


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:
*Name:
*Comment:
*Email:
TAG: Genetic mutation explains form brittle bone disease

(Date:11/18/2014)... 18, 2014   EyeLock Inc. , a ... MorphoTrust USA (Safran), a leading U.S. ... a strategic partnership to offer comprehensive biometric identity ... (MVA), airport screening and financial services markets. ... serves consumers through a nationwide network of 1,100 ...
(Date:11/11/2014)...  Forensicon, Inc., a Chicago -based ... the promotion of Yaniv Schiff from Senior ... Schiff,s new role as Director, he will lead company ... examiners and provide leadership within the company,s digital forensics ... Schiff joined Forensicon in 2006 ...
(Date:11/7/2014)... 7, 2014  In conjunction with the Glendale ... The Community Foundation of the Verdugos has announced the " ... PROJECT," a $250,000 initiative to keep the Verdugo Regional Crime ... first six months of existence, the Lab has processed more ... local law enforcement. "Because our number one priority ...
Breaking Biology News(10 mins):EyeLock, MorphoTrust Form Strategic Partnership to Pursue Commercial Enterprise Deployments 2EyeLock, MorphoTrust Form Strategic Partnership to Pursue Commercial Enterprise Deployments 3Yaniv Schiff Promoted to Director of Digital Forensics at Forensicon, Inc. 2Community Foundation Of The Verdugos Unveils Campaign To Fund Glendale-Burbank DNA Justice Project 2
(Date:11/24/2014)... Baltimore, MD (PRWEB) November 24, 2014 ... recruiting underrepresented patient populations into clinical trials at ... Maryland. , “Continental was created with the ... trials play a fundamental role in medical advances," ... the Tuskegee syphilis experiment to the immortal cell ...
(Date:11/24/2014)... Nov. 24, 2014  Spherix Incorporated (Nasdaq: ... to the fostering and monetization of intellectual property, ... Telecommunications Ltd.,  Case No. 3:13-cv-03494-M and  Spherix v. ... both in the United States District Court for ... . On November 21, 2014 ...
(Date:11/22/2014)... November 21, 2014 Two new educational webinars ... comes next for ALS research and how the pharmaceutical industry ... the Ice Bucket Challenge: Where Does the ALS Money Go? ... 2 December 2014, Time: 1:30pm ET, Register to ... speaker Dr. Merit Cudkowicz, Julianne Dorn Professor of Neurology at ...
(Date:11/22/2014)... Colo. (PRWEB) November 21, 2014 ... proprietary cloud based analytics and scientific testing methodologies relating ... commitment for a $750,000 line of credit from an ... extremely pleased to have secured this commitment from one ... Executive Officer of CannLabs. “This capital will help accelerate ...
Breaking Biology Technology:At Continental Clinical Solutions, CEO Saleh Stevens Focuses on Diversity in Clinical Trial Recruitment at Maryland Site 2At Continental Clinical Solutions, CEO Saleh Stevens Focuses on Diversity in Clinical Trial Recruitment at Maryland Site 3Markman Hearing Held as Scheduled in VTech and Uniden Cases 2DrugDev Webinars in December to Explore What Comes Next for ALS Research and How We Can Make Life Easier for Clinical Sites 2CannLabs Secures $750,000 Line Of Credit 2
Cached News: