Navigation Links
Novel treatment strengthens bones in genetic disease neurofibromatosis type-1
Date:8/14/2014

n called hyperosteoidosis.

They have now discovered that hyperosteoidosis in the mice is caused by accumulation of the molecule pyrophosphate, a strong inhibitor of bone mineralization. They found that in the absence of neurofibromin, the expression of certain genes is upregulated. These include genes that enable increased production and transport of pyrophosphate and a gene that prevents calcium and phosphate from depositing on collagen fibers.

In addition, the bone-forming cells fail to differentiate (mature) into "proper tenure-track osteoblasts," Elefteriou said, which means the cells don't produce alkaline phosphatase, the enzyme that normally breaks down pyrophosphate.

"That's a fourth factor preventing mineralization and the formation of new good bone," he said.

The investigators decided to try clearing the accumulated pyrophosphate by treating the mice with asfotase-alpha, an engineered form of alkaline phosphatase.

Asfotase-alpha is currently in clinical trials for hypophosphatasia, another rare genetic disease affecting bone formation.

They found that asfotase-alpha treatment improved bone mass, mineralization and bone mechanical properties in the mouse model of NF1.

"This could be a drug that would prevent fractures and help these kids pass through the early rapid growth period and reach the point where they aren't as likely to fracture the bone," Elefteriou said.

To explore whether the molecular pathology of the disease is the same in humans as in the mouse model, the researchers studied pseudoarthrosis tissue biopsies from patients with NF1. They found that the gene that promotes pyrophosphate synthesis is upregulated, suggesting a similar molecular pathology and supporting the notion that asfotase-alpha may be a successful treatment in patients.

There's much work to be done first, Elefteriou cautions. He notes that although the enzyme therapy corrects the functional defect of pyrophosp
'/>"/>

Contact: Leigh MacMillan
leigh.macmillan@vanderbilt.edu
615-322-4747
Vanderbilt University Medical Center
Source:Eurekalert  

Page: 1 2 3

Related medicine news :

1. Novel compound demonstrates anti-leukemic effect in zebrafish, shows promise for human treatment
2. Rutgers team discovers novel approach to stimulate immune cells
3. Novel drug candidates offer new route to controlling inflammation
4. Researchers present new findings for novel pancreatic cancer vaccine
5. Novel biomarkers reveal evidence of radiation exposure
6. VCU Massey Cancer Center sees potential in novel leukemia treatment
7. Study supports urate protection against Parkinsons disease, hints at novel mechanism
8. Novel Natural Sciences Repository Opens Web Portal
9. Novel Anti-Inflammatories May Offer a New Approach for the Treatment of Stroke
10. LA BioMed investigators, Drs. Kevin Bruhn and Noah Craft, develop novel treatment for melanoma
11. Novel radiation therapy safely treats prostate cancer and lowers the risk of recurrence
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Novel treatment strengthens bones in genetic disease neurofibromatosis type-1
(Date:7/28/2015)... ... July 28, 2015 , ... PeopleKeys ... the regional winner of the EY Entrepreneur of the Year award. The award ... of home healthcare, and the innovative work they have done in incorporating new ...
(Date:7/28/2015)... ... July 28, 2015 , ... Advanced Fertility Center of ... inception in 2010, and Dr Dozortsev , a Reproductive Laboratory Director at AFCT, ... 2012, he was succeeded by Dr Gianpiero Palermo, who is credited with the discovery ...
(Date:7/28/2015)... , ... July 28, 2015 , ... Headaches are the ... in as a close second. Clients suffering from headaches and back pain often find ... with chiropractic treatment, The Joint 's nine offices in the St. Louis area ...
(Date:7/28/2015)... ... July 28, 2015 , ... Want to improve your fitness level ... your easy chair? Luckily, there are plenty of back-friendly cardio exercises that are safe ... surgeon at Atlantic Spine Center . , It’s simply untrue that those ...
(Date:7/27/2015)... ... July 28, 2015 , ... Almost a year ago, the US Preventive ... for persons who are obese and those who are overweight with at least one ... will affect any commercial health plan with a program year start after August 26, ...
Breaking Medicine News(10 mins):Health News:Receiving Recognition for Compassionate Care and Innovative Processes: Celtic Healthcare CEO Arnie Burchianti Wins Regional EY Entrepreneur of the Year Award 2Health News:Receiving Recognition for Compassionate Care and Innovative Processes: Celtic Healthcare CEO Arnie Burchianti Wins Regional EY Entrepreneur of the Year Award 3Health News:Advanced Fertility Center of Texas Is Proud to Announce That Our Lab Director Has Been Re-elected as The American College of Embryology President 2Health News:The Joint St. Louis Offers “2 for Thursday” Special, Chiropractic Care Services, Affordable Back Pain Relief 2Health News:Safe Cardio for Back Pain Sufferers 2Health News:Safe Cardio for Back Pain Sufferers 3Health News:How Digital Therapeutics Can Help Payers Out of Regulatory Fix 2Health News:How Digital Therapeutics Can Help Payers Out of Regulatory Fix 3
... Indian may go through an entire life without contributing a ... in death his carbon footprint jumps . Alarmed by the ... open-air cremation using firewood, an environmental group in New Delhi ... faith tells us we must do our last rites in ...
... of Parkinson's disease in monkeys with the help of human ... study, published in the Proceedings of the National Academy of ... aborted foetuses, and grew them into large numbers in the ... the brains of monkeys with a severe form of chemically ...
... may face more sleep problems than those from middle-class ... clear . ,The study, presented Monday in Minneapolis ... Associated Professional Sleep Societies (APSS), compared the sleep pattern ... ,The children were on an average ...
... how female cells are able to choose randomly between their two ... ,Human males have both a X and a Y chromosome ... early stage in the development of a womans fertilised egg the ... process is crucial to survival and problems with the process are ...
... when the Bush administration and its friends in Europe ... the environment-polluting petroleum products , a senior science adviser ... open against ethanol and the like. ,Roland ... the Defra (Department for Environment, Food and Rural Affairs) ...
... life-saving vaccines for children which are permissible under Islam ... here Tuesday ahead of an inaugural health conference for ... from the Organisation of the Islamic Conference's 57 member ... met to tackle issues including polio vaccination, preparedness for ...
Cached Medicine News:Health News:New 'green' Pyre to Cool Planet While Burning India's Dead 2Health News:New 'green' Pyre to Cool Planet While Burning India's Dead 3Health News:Selection of Best X Chromosome in Women 2Health News:Bio-fuels Would Increase Greenhouse Gas Emissions, Says Senior British Scientists 2Health News:Bio-fuels Would Increase Greenhouse Gas Emissions, Says Senior British Scientists 3Health News:Child Vaccines a Key Issue for OIC Forum in Malaysia 2
(Date:7/28/2015)... LINCOLNSHIRE, Ill. , July 28, 2015 ... leverage business acumen on par with their levels of ... Clinical Chemistry (AACC) Annual Meeting & Clinical Lab Expo, ... Box™ to deliver a comprehensive and intuitive ecosystem that ... advances in four key areas, Sysmex aims to add ...
(Date:7/28/2015)... 2015 Research and Markets ... "Global Post-traumatic Stress Disorder Therapeutics Market 2015-2019" ... therapeutics market to grow at a CAGR of 1.09% ... the present scenario and the growth prospects of the ... calculate the market size, the report considers revenue generated ...
(Date:7/28/2015)... July 28, 2015   DigiPath Labs , the ... combining efforts with True North Laboratory of ... , a leading global supplier of diagnostic solutions for ... Romer Labs, rapid diagnostic test kits to screen ... "This joint effort is expected to result ...
Breaking Medicine Technology:Sysmex Moves Beyond a Better Box 2Sysmex Moves Beyond a Better Box 3Sysmex Moves Beyond a Better Box 4Global Post-traumatic Stress Disorder Therapeutics Market 2015-2019 - Growing Number of Accidents and Violence Worldwide Drives the Market 2DigiPath Labs Partners with Romer Labs to Validate Food-Borne Pathogen and Mycotoxin Testing Solutions for Cannabis 2DigiPath Labs Partners with Romer Labs to Validate Food-Borne Pathogen and Mycotoxin Testing Solutions for Cannabis 3
... SEGUNDO, Calif., June 23 DaVita Inc., a ... with chronic kidney,failure and disease (CKD), recently introduced ... that encourage CKD patients to,take control of their ... (Logo: http://www.newscom.com/cgi-bin/prnh/20020729/DAVITALOGO ), Available in ...
... Advocate Christ,Medical Center in Oak Lawn, Ill. has become ... the only one in the Advocate Health Care system ... glue-like liquid for,the successful treatment of brain aneurysms without ... Grobelny MD, of,the medical center,s Neurosciences Institute, led a ...
Cached Medicine Technology:DaVita Strives to Improve Quality of Life and Reduce Overall Costs of Kidney Care Through Community-Based Education 2DaVita Strives to Improve Quality of Life and Reduce Overall Costs of Kidney Care Through Community-Based Education 3Advocate Christ Medical Center Using Glue-Like Liquid to Seal Off Brain Aneurysms 2
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
Medicine Products: