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:4/11/2017)... 11, 2017 Crossmatch®, a globally-recognized leader ... today announced that it has been awarded a ... Activity (IARPA) to develop next-generation Presentation Attack Detection ... "Innovation has been a driving force within Crossmatch ... allow us to innovate and develop new technologies ...
(Date:4/5/2017)... , April 5, 2017  The Allen Institute for ... Cell Explorer: a one-of-a-kind portal and dynamic digital window ... imaging data, the first application of deep learning to ... stem cell lines and a growing suite of powerful ... for these and future publicly available resources created and ...
(Date:3/30/2017)... , March 30, 2017  On April 6-7, 2017, ... the Genome hackathon at Microsoft,s headquarters in ... competition will focus on developing health and wellness apps ... Hack the Genome is the first hackathon ... The world,s largest companies in the genomics, tech and ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... granted orphan drug designation to SBT-100, its novel anti-STAT3 (Signal Transducer and Activator ... osteosarcoma. SBT-100 is able to cross the cell membrane and bind intracellular STAT3 ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... (ADC) therapeutics, today confirmed licensing rights that give it exclusive global access ... developed in collaboration with Children’s Hospital Los Angeles (CHLA). Additionally, an ...
(Date:10/10/2017)... ... , ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, Inc. ... The event entitled “Stem Cells and Their Regenerative Powers,” was held on August ... MPVM was joined by two human doctors: Peter B. Hanson, M.D., Chief of Orthopedic ...
(Date:10/10/2017)... Calif. , Oct. 10, 2017 SomaGenics ... from the NIH to develop RealSeq®-SC (Single Cell), expected ... for profiling small RNAs (including microRNAs) from single cells ... Program highlights the need to accelerate development of approaches ... "New techniques for measuring levels ...
Breaking Biology Technology: