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:5/2/2016)... ... May 02, 2016 , ... MedaCheck, a leading medication ... outcomes, has announced its partnership with GrandView Health Services. , With decades of ... counter and prescription drug pharmacy services to thousands of residents. Serving Indiana, Ohio, ...
(Date:5/2/2016)... TN (PRWEB) , ... May 02, 2016 , ... ... and behavioral health services, today announced the opening of Twin Lakes Recovery Center. ... will be Summit’s first in the state. The residential facility is set ...
(Date:5/1/2016)... (PRWEB) , ... May 01, 2016 , ... Women's Excellence ... Essential Oils and taught by Patti Dolan, a Young Living Gold Member. , The ... 6:30pm - 7:15pm followed by a small intro to the Oils that can benefit ...
(Date:4/30/2016)... (PRWEB) , ... May 01, 2016 , ... Serenity Recovery, ... to rehabilitation, has produced a new video that focuses on one of the more ... recent sessions and clips from interviews with a participating patients and the Yoga class ...
(Date:4/30/2016)... , ... April 30, 2016 , ... ... Boise, President and CEO of EMED, today signed a multifaceted agreement which will ... and the Northern Caribbean University Department of Natural and Applied Sciences, Allied Health ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... April 28, 2016  Marking its one year ... and ovarian cancer risk test, Color Genomics ... genes that highly impact the most common hereditary ... the Color Test analyzes hereditary cancer risks for ... uterine cancers. The Color Test is physician ordered ...
(Date:4/28/2016)... YORK , April 28, 2016 ... online consumer insights on healthcare, announced today that it ... their report Cool Vendor in Life Sciences, 2016, ... April 15, 2016.  The report focuses on life-science- oriented ... gain insight from patients and doctors, confirm medication ingestion, ...
(Date:4/28/2016)... April 28, 2016 Oramed Pharmaceuticals Inc. ... pharmaceutical company focused on the development of oral drug delivery ... upcoming PIONEERS 2016 conference, presented by Joseph Gunnar ... New York . Nadav Kidron , ... conference. Presentation Details:   PIONEERS ...
Breaking Medicine Technology: