Navigation Links
Potential therapy discovered for hypophosphatasia, a congenital form of rickets

Researchers at the Burnham Institute for Medical Research, led by Jos Luis Milln, Ph.D., have demonstrated in mice the first successful use of enzyme replacement therapy to prevent hypophosphatasia (HPP), a primary skeletal disease of genetic origin. This discovery lays the foundation for future clinical trials for HPP patients.

Rickets is a softening of the bones that most commonly results from a lack of vitamin D or calcium and from insufficient exposure to sunlight. Hypophosphatasia is a rare, heritable form of rickets caused by mutations in a gene called TNAP, which is essential for the process that causes minerals such as calcium and phosphorus to be deposited in developing bones and teeth. The physical presentations of this disorder can vary depending on the specific mutation, with more severe symptoms occurring at a younger age of onset. The most severe form of the disease occurs at birth, which can present with absence of bone mineralization in utero, resulting in stillbirth.

Using a mouse model, Jos Luis Milln, Ph.D. tested the hypothesis that, when administered from birth, a bone-targeted form of the TNAP gene would ease the skeletal defects of HPP. The Milln laboratory, in collaboration with scientists from Enobia Pharma in Montreal, Canada and from the Shriners Hospitals for Children in St. Louis, Missouri, created a soluble form of human TNAP that had been shown to display a strong attraction to bone tissue. Upon injecting the enzyme into the fat layer under the skin of the mice, the treated mice maintained a healthy rate of growth and apparent well being, as well as normal bone mineral density (BMD) of the skull, femur and spine. In fact, complete preservation of skeletal and dental structures were observed after 15 days, and bone lesions were still not seen after 52 days of treatment.

"While the biochemical mechanism that leads to skeletal and dental defects of HPP is now generally understood," said Dr. Milln, "there is currently no established medical treatment."

Given the success of this therapy in preventing HPP, current efforts in Dr. Milln's laboratory are focused on reversing the bone defects in mice once the disease is quite advanced. Future clinical trials may reveal this as the first promising therapy for patients with this genetic disorder.


Contact: Andrea Moser
Burnham Institute

Related biology news :

1. Compound has potential for new class of AIDS drugs
2. Finding the real potential of no-till farming for sequestering carbon
3. Biomarker predicts malignancy potential of HG-PIN lesions in the prostate
4. In computer models and observations, researchers see potential for significant red tide season
5. Menstrual blood -- a valuable source of multipotential stem cells?
6. Forests long-term potential for carbon offsetting
7. Scientists uncover the potential to control adult stem cells
8. Cold Spring Harbor Laboratory scientists devise potential approach to treat spinal muscular atrophy
9. Researchers to develop ocean sanctuary noise budget to evaluate potential impact on marine mammals
10. Potential association of type 2 diabetes genes with prostate cancer
11. Potential new target for multiple sclerosis therapy
Post Your Comments:
Related Image:
Potential therapy discovered for hypophosphatasia, a congenital form of rickets
(Date:11/18/2015)... York , November 18, 2015 ... Research has published a new market report titled  Gesture ... Trends, and Forecast, 2015 - 2021. According to the report, ... 2014 and is anticipated to reach US$29.1 bn by ... 2021. North America dominated ...
(Date:11/17/2015)... , November 17, 2015 ... au 19 novembre  2015.  --> Paris ... --> DERMALOG, le leader de l,innovation biométrique, ... la fois passeports et empreintes sur la même surface ... les passeports et l,autre pour les empreintes digitales. Désormais, ...
(Date:11/17/2015)... SOUTH EASTON, Mass. , Nov. 17, 2015 /PRNewswire/ ... "Company"), a leader in the development and sale of ... to the worldwide life sciences industry, today announced it ... closing of its $5 million Private Placement (the "Offering"), ... Offering to $4,025,000.  One or more additional closings are ...
Breaking Biology News(10 mins):
(Date:11/27/2015)... November 27, 2015 ... popularity of companion diagnostics is one of ... market with pharmaceutical companies and diagnostic manufacturers ... tests. . --> ... report on global cancer biomarkers market spread ...
(Date:11/25/2015)... -- PharmAthene, Inc. (NYSE MKT: PIP) announced  today that its ... (Rights Plan) in an effort to preserve the value ... 382 of the Internal Revenue Code (Code). ... its NOLs could be substantially limited if the Company ... of the Code. In general, an ownership change occurs ...
(Date:11/25/2015)... Nov. 25, 2015  Neurocrine Biosciences, Inc. (Nasdaq: ... President and CEO of Neurocrine Biosciences, will be presenting ... New York . ... website approximately 5 minutes prior to the presentation to ... the presentation will be available on the website approximately ...
(Date:11/25/2015)... PORTLAND, Oregon , November 25, 2015 /PRNewswire/ ... Deep Market Research Report is a professional and ... Genomics industry.      (Logo: ... basic overview of the industry including definitions, classifications, ... analysis is provided for the international markets including ...
Breaking Biology Technology: