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:10/29/2014)... stem cell, those referred to as ,facultative, form part—together ... nothing that differentiates these cells from the others. However, ... the capacity to become stem cells again. This phenomenon ... that hosts cells that stimulate tissue growth, thus allowing ... a transplant. Knowledge of the underlying mechanism that ...
(Date:10/29/2014)... Ghrelin is a hormone released by the stomach and ... viewed as a psychoactive substance that primarily affects brain ... , This knowledge, combined with findings from animal ... the potential to stimulate alcohol craving. , Dr. Lorenzo ... found that, as they had anticipated, alcohol craving was ...
(Date:10/28/2014)... . , How ... when times are lean? By studying wild chimpanzees in ... the Max Planck Institute for Evolutionary Anthropology in Leipzig, ... can acquire extra energy needed to maintain large, costly ... more en route to breakfast sites containing fruits that ...
Breaking Biology News(10 mins):A mechanism that allows a differentiated cell to reactivate as a stem cell revealed 2Ghrelin stimulates an appetite for drinking alcohol 2The early chimp gets the fig 2The early chimp gets the fig 3
(Date:10/30/2014)... Al Khaimah, UAE (PRWEB) October 30, 2014 ... appointment of Dr. James A. Manganello, Chairman of the Board, ... of The Bahamas. The appointment was made by the ... Bahamas on September 24th, 2014. , More than ... Therapy and Research Bill , Prime Minister Perry Christie said ...
(Date:10/30/2014)... of the key challenges in the development of quantum ... , In a paper published today (28 October) in ... show how to make a new type of flexibly ... such as high-precision sensors and specialised superfast computers, often ... the methods for trapping these tiny particles are hugely ...
(Date:10/27/2014)... 2014 The Italian company ... and sell its artificial "lower limb", after the ...      (Photo: http://photos.prnewswire.com/prnh/20141027/713097 ) ... the definitive judgement has arrived: Roadrunnerfoot, the small ... accessible hi-tech prostheses with composite materials, has won ...
(Date:10/27/2014)... (PRWEB) October 27, 2014 New ... SoundConnect , an industry leading unified communication ... partners and agents to deliver cloud-based audio and ... growth opportunities. , With SoundConnect’s Q4 incentive ... twenty-five video and/or web conferencing licenses sold, now ...
Breaking Biology Technology:Grace Century’s Stem Cell Biobank Project Announces Chairman’s Appointment to National Stem Cell Ethics Committee of The Bahamas 2Grace Century’s Stem Cell Biobank Project Announces Chairman’s Appointment to National Stem Cell Ethics Committee of The Bahamas 3Italian Lower Limb Prosthesis Company Wins Lawsuit Against German Giant Ottobock 2SoundConnect Unveils Q4 Partner Incentives 2
Cached News: