Navigation Links
Potential therapy discovered for hypophosphatasia, a congenital form of rickets
Date:5/30/2008

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
amoser@burnham.org
858-646-3146
Burnham Institute
Source:Eurekalert  

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:
*Name:
*Comment:
*Email:
Related Image:
Potential therapy discovered for hypophosphatasia, a congenital form of rickets
(Date:4/19/2016)... April 20, 2016 The new ... a compact web-based "all-in-one" system solution for all door ... reader or the door interface with integration authorization management ... control systems. The minimal dimensions of the access control ... the building installations offer considerable freedom of design with ...
(Date:4/15/2016)... 15, 2016 Research and ... Biometrics Market 2016-2020,"  report to their offering.  , ... , ,The global gait biometrics market is expected ... the period 2016-2020. Gait analysis generates ... be used to compute factors that are not ...
(Date:4/13/2016)... 13, 2016  IMPOWER physicians supporting Medicaid patients in ... new clinical standard in telehealth thanks to a new ... higi platform, IMPOWER patients can routinely track key health ... mass index, and, when they opt in, share them ... to a local retail location at no cost. By ...
Breaking Biology News(10 mins):
(Date:5/26/2016)... NEW YORK , May 26, 2016 ... industry, investors see value in this space. Today,s pre-market research ... Healthcare equities: Radius Health Inc. (NASDAQ: RDUS ), ... (NASDAQ: ARWR ), and Five Prime Therapeutics Inc. ... these stock technical briefings at: http://www.activewallst.com/ ...
(Date:5/26/2016)... ... May 26, 2016 , ... ... are used in leading laboratories all over the globe. Their cute firefly logo ... to manufacturing awesome cuvettes, FireflySci makes spectrophotometer calibration standards that never require recalibration. ...
(Date:5/25/2016)... ... 2016 , ... The Ankle Plating System 3 and Small ... fractures of the distal tibia and fibula. This system marks Acumed's continued commitment ... is composed of seven plate families that span the lateral, medial, and posterior ...
(Date:5/25/2016)... ... May 25, 2016 , ... Scientists at the University of ... tried for mesothelioma may be hampering the research that could lead to one good ... here to read it now. , The team evaluated 98 mesothelioma patients ...
Breaking Biology Technology: