Navigation Links
Gains made towards treatment of rare bone disease
Date:2/20/2013

This press release is available in French.

Diagnosed in toddlers, X-linked hypophosphatemia (XLH) is the most common form of heritable rickets, in which soft bones bend and deform, and tooth abscesses develop because infections penetrate soft teeth that are not properly calcified. Researchers at McGill University and the Federal University of Sao Paulo have identified that osteopontin, a major bone and tooth substrate protein, plays a role in XLH. Their discovery may pave the way to effectively treating this rare disease.

The findings were made by the laboratories of Marc McKee, a professor in the Faculty of Dentistry and the Department of Anatomy and Cell Biology at McGill University, and of Nilana M.T. Barros, a professor at the Federal University of Sao Paulo. The team built upon previous research that had shown that mutations in the single gene PHEX are responsible for causing XLH. The results of this latest research by Drs. McKee and Barros will be published in the March issue of the Journal of Bone and Mineral Research.

"XLH is caused in part by renal phosphate wasting, which is the urinary loss from the body of phosphate, an important building block of bones and teeth, along with calcium." says Prof. McKee. "In pursuing other factors that might contribute to XLH, we used a variety of research methods to show that PHEX enzymatic activity leads to an essentially complete degradation of osteopontin in bones."

This loss of osteopontin, a known potent inhibitor of mineralization (or calcification) in the skeleton and dentition, normally allows bones and teeth to mineralize and thus harden to meet the biomechanical demands placed on them. In XLH patients lacking functional PHEX enzyme, osteopontin and some of its smaller potent inhibitory peptides are retained and accumulate within the bone. This prevents their hardening and leads to soft deformed bones such as bowed legs (or knock-knees) seen in toddlers.

While not life-threatening, this decreased mineralization of the skeleton (osteomalacia), along with the soft teeth, soon leads to a waddling gait, short stature, bone and muscle pain, weakness and spontaneous tooth abscesses.

The fact that these symptoms are only partially improved by the standard treatment with phosphate which improves circulating phosphate levels prompted the researchers to look for local factors within the bone that might be blocking mineralization in these patients.

"With this new identification of osteopontin as a substrate protein for PHEX," says Professor Barros, "we can begin to develop an enzyme-replacement therapy to treat XLH patients who have nonfunctional PHEX, much as has been done using a different enzyme to treat another rare bone disease called hypophosphatasia."


'/>"/>

Contact: Cynthia Lee
cynthia.lee@mcgill.ca
514-398-6754
McGill University
Source:Eurekalert

Related medicine news :

1. Scientists identify major source of cells defense against oxidative stress
2. Omega-3 Supplements No Help Against Repeat Heart Trouble: Review
3. Kinase test may yield big gains for drug-resistant cancers
4. Will women use microbicides to protect themselves against HIV?
5. Vitamin E in diet protects against many cancers
6. Lower-Dose Radioiodine Effective Against Thyroid Cancer
7. Study identifies possible protective blood factors against Type 2 diabetes
8. New study of NIH funding allocations suggests potential efficiency gains
9. Stem Cell Study Shows Promising Results Against Heart Failure
10. Blood pressure drugs dont protect against colorectal cancer
11. CNIO scientists successfully test the first gene therapy against aging-associated decline
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/27/2016)... ... 27, 2016 , ... Beleza Medspa has initiated a new program ... is the first time that Coolsculpting is being used for for more than just ... ensure they meet the prescribed body-fat standard, measured by the circumference-based tape method. ...
(Date:5/27/2016)... ... May 27, 2016 , ... With ... pharmaceutical, medical and food industries. Aside from its GMP accreditation, Validation Center is ... of successfully certified products, services and staff. , Validation Center is ISO17025 accredited ...
(Date:5/26/2016)... ... May 26, 2016 , ... ... thousands of defective respirators, according to court documents and SEC filings. A ... and Becky Tyler v. American Optical Corporation, Case No. BC588866, Los Angeles County, ...
(Date:5/26/2016)... Washington, D.C. (PRWEB) , ... May 26, 2016 , ... ... the men and women who lost their lives in military battle for the country. ... discount cards in 2015 to provide more programs that empower independence for disabled military ...
(Date:5/26/2016)... ... May 26, 2016 , ... MadgeTech will be showcasing its line of ... Warner, New Hampshire at the MadgeTech headquarters. With products sold in more than 100 ... government agencies, including NASA. , In 2012, NASA strategically set up 17 RHTemp101A ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... -- According to a new market research ... by Therapeutic Area (Oncology, Cosmeceutical/Plastic Surgery), by Application (Drug ... Hospitals/ Clinics) - Forecast to 2021", published by MarketsandMarkets, ... the forecast period of 2016 to 2021. This market ... from USD 117.3 Million in 2016, at a CAGR ...
(Date:5/25/2016)... Germany and GERMANTOWN, Maryland ... N.V. (NASDAQ: QGEN ; Frankfurt Prime Standard: QIA) ... and co-development agreement with Therawis Diagnostics GmbH to develop and ... to develop and market PITX2 as a marker to predict ... breast cancer patients. "We are pleased to partner ...
(Date:5/25/2016)... , May 25, 2016  According to Kalorama ... $381 billion in 2015.  Though these are challenging ... of opportunity for success for companies that remain ... search of new growth prospects medical device companies ... research and development (R&D) than do companies in ...
Breaking Medicine Technology: