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
'/>"/>

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

Page: 1 2

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:12/10/2014)... Dec. 08, 2014 Research and Markets ... of the "Biometrics Market in Japan 2014-2018" ... http://photos.prnewswire.com/prnh/20130307/600769 The integration ... as rural banking and upgradation of the driver,s ... in the market. Besides the aforementioned projects, biometrics ...
(Date:12/5/2014)... , Dec. 4, 2014 Increased emphasis ... investments in new testing and inspection technologies. The ... rise to a range of innovative test solutions. ... of Generation Y, which is generally more inclined ... result, product development strategies of test equipment vendors ...
(Date:12/4/2014)... Dec. 3, 2014  Crossmatch™, a leading provider ... its DigitalPersona ® Pro Enterprise software and ... deployed throughout First Bank branch locations in ... Carolina and Virginia. First Bank, a progressive ... Pines, North Carolina , selected the Crossmatch ...
Breaking Biology News(10 mins):Biometrics Market in Japan 2014-2018: Key Vendors are DDS, Fujitsu, Hitachi and NEC 2Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 2Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 3Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 4First Bank Partners with Crossmatch to Increase Log In Security 2First Bank Partners with Crossmatch to Increase Log In Security 3
... de dezembro de  2012 A Integrated Biometrics, ... a certificação pelo FBI de sua novíssima tecnologia ... IB criou o novo produto usando a tecnologia ... com um transistor de película fina (TFT). A ...
... methodologies of identifying genes that contribute to the ... in several immune-system-related pathways contribute to development of ... 4 in the open-access journal PLOS ONE ... function in autism by integrating analysis of autism-associated ...
... and Cargill have renewed their partnership to eliminate lymphatic filariasis ... disease that affects over 2 million Haitians and is the ... is truly a national disease in Haiti and 87 percent ... of coastal Haiti, as much as half of the population ...
Cached Biology News:Integrated Biometrics Apresenta Sherlock, o Menor, Mais Leve e Fino Sensor Appendix F Mobile ID 2Combining two genome analysis approaches supports immune system contribution to autism 2Combining two genome analysis approaches supports immune system contribution to autism 3Cargill expands support of Notre Dame Haiti Program 2Cargill expands support of Notre Dame Haiti Program 3
(Date:12/24/2014)... Dec. 23, 2014  Rock Creek Pharmaceuticals, Inc., (NASDAQ: ... filed a Clinical Trial Application (CTA) with the ... Agency (MHRA) seeking regulatory approval to initiate clinical trials ... Citrate. Contingent on the Company receiving CTA ... I trial to assess the safety, tolerability and dose ...
(Date:12/22/2014)... Dec. 22, 2014  Alternative Energy & Environmental ... has signed a letter of intent to acquire ... and patented a nanotechnology-based development platform used to ... enable rapid on-site collection and testing to identify ... issues in an immediate, non-invasive and cost-effective manner. ...
(Date:12/22/2014)... Fertility Associates of Memphis has announced a new ... network of more than 20 contributing fertility practices ... access to a national pool of frozen donor ... of Memphis is the only fertility clinic in the ... Dr. William Kutteh , director of Fertility Associates of ...
(Date:12/19/2014)... -- Roche (SIX: RO, ROG; OTCQX: RHHBY) announced today ... privately held company based in Redwood ... big data platform for centralized management and processing ... on-market Genomic Management Solution, Bina-GMS 1 , empowers ... and scalable analyses to maximize the value of ...
Breaking Biology Technology:Rock Creek Pharmaceuticals Files Clinical Trial Application in the UK for Clinical Trials of Anatabine Citrate Formulations 2Rock Creek Pharmaceuticals Files Clinical Trial Application in the UK for Clinical Trials of Anatabine Citrate Formulations 3ALNE Announces Intention To Acquire BioTechPharma 2Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 2Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 3Roche acquires Bina Technologies and enters the genomic informatics market 2Roche acquires Bina Technologies and enters the genomic informatics market 3
... Feb. 6, 2012  BioStorage Technologies, a global provider ... cold chain logistics for the bioscience industry, will ... Partnerships in Clinical Trials on Tuesday, March 6, ... Florida.  The 2-hour workshop will ...
... Pa., Feb. 6, 2012  Auxilium Pharmaceuticals, Inc. (Nasdaq: ... today announced the appointment of two executive officers, ... Executive Vice President, Chief Administrative Officer and General ... Senior Vice President, Sales. "The leadership ...
... in Science , a Manchester team lead by Nobel ... opened a third dimension in graphene research. Their research shows ... to become the next silicon. Graphene one ... endless unique properties, from electronic to chemical and from optical ...
Cached Biology Technology:BioStorage Technologies to Host Global Sample Management Workshop at Partnerships in Clinical Trials 2Auxilium Announces Appointments to Enhance Leadership Team 2Auxilium Announces Appointments to Enhance Leadership Team 3Auxilium Announces Appointments to Enhance Leadership Team 4Auxilium Announces Appointments to Enhance Leadership Team 5Graphene electronics moves into a third dimension 2
DNA Purification...
... Rat adult normal paraffin tissue ... genes or proteins of interest in ... tissues. Rat brain, heart, kidney, ... tissues are arrayed on positively charged ...
EPH electrode, anode, 1. Category: Electrophoresis Systems & Standards & Reagents, IEF & SDS-PAGE & 2-D Electrophoresis, Multiphor II Kits & Components and Accessories....
LIVE/DEAD® Sperm Viability Kit *200-1000 assays*...
Biology Products: