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:6/18/2013)... 2013). A team of internationally recognized feline experts including ... from the University of Lincoln, U.K. and Dr Ilona ... invited by the International Society of Feline Medicine (ISFM) ... compile guidelines for veterinarians, owners and those working with ... the domestic cat. The new guidelines appear in the ...
(Date:6/17/2013)... locations with central nervous system infections may well be ... according to a study to be published in ... Society for Microbiology. Researchers have detected the virus in ... central nervous system infections of unknown cause, and in ... pigs and poultry, suggesting animals may serve as reservoirs ...
(Date:6/17/2013)... turn out to be just as important as what they ... Hospital. , The study, led by Dr. Nav Persaud, ... eating habits in kids ages three to five and their ... at risk for cardiovascular disease later in life. , The ... today. , "We know that eating behaviours are ...
Breaking Biology News(10 mins):Feline behavior experts release guidelines to improve the welfare of cats 2New virus discovered in patients with central nervous system infections 2New virus discovered in patients with central nervous system infections 3Poor eating behaviors may put preschoolers at risk for later health problems 2
... treatment of malaria has made progress since 2000, but an ... the mosquito-borne parasitic disease makes a comeback, the first joint ... UN Children's Fund (UNICEF) says. , The report on the ... as HIV/AIDS was launched today at events in New York, ...
... Mathematical models have become invaluable decision-making tools for ... Kingdom's foot-and-mouth epidemic of 2001, models can be ... underlying characteristics of an infection and they can ... however, such models make implicit assumptions that may ...
... processes in the human brain that lead to addiction, some researchers ... humans and bees don't look much alike. But how bees respond ... the workings of the primitive portion of our brains that lead ... drugs. , This region of the brain exerts such a powerful ...
Cached Biology News:Malaria killing a million a year 2Field of beams - Novel system uses polarized light pulses to reveal crop health 2Bees, Brains and Addiction 2
(Date:6/18/2013)... DALLAS , June 18, 2013 ... Segment (Sequencing Platforms, Knowledge Management Tools & Data Analysis Services) ... analyzes and studies the Major Market Drivers, Restraints, and Opportunities ... , Asia-Pacific and Rest of ... Data Tables 22 Figures ...
(Date:6/18/2013)... 2013 This webinar will examine ... and promotion, and review the basic FDA regulations ... to apply these principles through real world case ...     The fundamentals on FDA regulations and guidance related ...     Assessing traditional and newer forms of promotional ...
(Date:6/18/2013)... WOODLANDS, Texas , June 18, 2013 /PRNewswire/ ... LXRX ), a biopharmaceutical company focused on discovering ... John Northcott has joined the company ... and operations. Mr. Northcott brings extensive commercial experience ... commercialization across a variety of therapeutic areas. ...
(Date:6/18/2013)... 18, 2013 Though health care jobs ... to the U.S. Bureau of Labor Statistics -- the increase ... per month. Most new health care jobs were added in ... saw a loss of 6,000 jobs. Overall, the U.S. unemployment ... Challenger, Gray & Christmas reported that a total of just ...
Breaking Biology Technology:Bioinformatics Market Worth $7.5 Billion by 2017 2Bioinformatics Market Worth $7.5 Billion by 2017 3Drug Advertising and Promotion Labeling: FDA Regulations, New Webinar Hosted by Xtalks 2John Northcott Joins Lexicon as Vice President of Marketing, Commercial Strategy and Operations 2John Northcott Joins Lexicon as Vice President of Marketing, Commercial Strategy and Operations 3MedZilla Employment Report for June 2013 -- Jobs in Health Care Grow, But at Slower Pace 2MedZilla Employment Report for June 2013 -- Jobs in Health Care Grow, But at Slower Pace 3
... Aug. 27 The American Stock Exchange(R),(Amex(R)) today ... the ticker,symbol CUR. Neuralstem, Inc. is a ... stem cell technology in the field of,regenerative medicine. ... Stock Exchange," said,John McGonegal, Senior Vice President of ...
... Neogen Corporation,(Nasdaq: NEOG ) has acquired Kane ... health products. Based in South Dakota, Kane ... than 200 distributors in the United States and ... its,well-regarded AG-TEK(R) veterinary product line, Kane Enterprises recorded,revenues ...
... KONG, Aug. 27 /Xinhua-PRNewswire-FirstCall/ -- China Technology,Development Group ... the appointment of Charlene Hua as the Company,s ... to a board,resolution passed on the same date. ... of the Company. As Chief Financial Officer, ...
Cached Biology Technology:Neogen Acquires Kane Enterprises 2China Technology Announces New Chief Financial Officer 2China Technology Announces New Chief Financial Officer 3
... a 2-color staining method for labeling DNA ... apoptotic cells by flow cytometry. The kit ... measuring apoptosis in cells including positive and ... washing, reaction and rinsing buffers for processing ...
... ReadyPrep overlay agarose, is a low ... sample setup to secure IPG strips in ... dye is incorporated to allow monitoring of ... 0.5% low melting point agarose in 1x ...
The Trans-Blot Plus gel and cassette assembly tray is used to hold the Trans-Blot Plus gel holder cassette, buffer, and other materials for the gel and membrane sandwich during their assembly....
... cell is an apparatus dedicated to general ... agarose slab gels. The cell includes the ... tray, 5 glass plates, 50 sheets of ... templates, and instructions. Dimensions are 21 x ...
Biology Products: