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:8/29/2015)... ... August 29, 2015 , ... On Saturday, September 19, ... Applied Research Foundation (Meso Foundation) will present an educational program titled “Asbestos and ... and lasts through 9:30 PM (doors open at 6:45pm) at Calvary United Methodist Church, ...
(Date:8/29/2015)... ... 29, 2015 , ... It can be uncomfortable to wear ... and sweat. "In order to prevent these problems, I conceived of my design," ... MEN'S UNDERGARMENT provides optimal support for a male’s crotch. It improves comfort for ...
(Date:8/29/2015)... ... August 29, 2015 , ... Dr. Tim Novelli, DC., Founder ... mission is to increase acceptance of the chiropractic field in the military. All too ... them. Although Chiropractic was made available to the VA program over a decade ...
(Date:8/29/2015)... , ... August 29, 2015 , ... Next weekend is ... summer (which astronomically, officially ends on September 22nd this year). For IT security personnel, ... hangovers linger on which could prove far more costly than a simple headache. , ...
(Date:8/29/2015)... ... August 29, 2015 , ... ... obstructive pulmonary disease (including emphysema), or asthma, are at higher risk from wildfire ... heart attack, heart failure or heart-rhythm problems (arrhythmia or irregular heartbeat) are also ...
Breaking Medicine News(10 mins):Health News:Mesothelioma Applied Research Foundation to Hold Educational Class About Asbestos and Mesothelioma Prevention 2Health News:Modified Men’s Underwear Promote More Comfort and Hygiene - Designed by InventHelp Client (LGI-1968) 2Health News:The Patriot Project brings Chiropractic Care to the Armed Forces and their Families - Rapid Release Technology Joins the Effort to Recruit more Doctors to Pledge 2Health News:Business Cyber Security – Come Out of the Summer with a Clean Slate 2Health News:Business Cyber Security – Come Out of the Summer with a Clean Slate 3Health News:Business Cyber Security – Come Out of the Summer with a Clean Slate 4Health News:Heart Fit Clinic Sounds the Alarm on Forest Fire Smoke and Chronic Heart Disease in Calgary Area 2
... school seniors drink because they want to experiment with alcohol, ... it helps them relax. A new study finds that a ... for drinking, but they also drink to get away from ... with multiple reasons to drink, including reasons related to coping ...
... life span and heat tolerance in ... ... the chemical,that gives rotten eggs their sulfurous stench -- and the same ... mice into a state of reversible metabolic hibernation -- has,now been shown ...
... Best Drugs for 35 Conditions, YONKERS, N.Y., ... between doctors and patients, especially,when it comes to ... the,January issue of Consumer Reports, in which CR ... about drugs for 35 conditions including,Alzheimer,s disease, heart ...
... Words, Contains Candidates, Quotes on Health Care,Financial Security ... out from the,first caucus in Iowa, Divided We ... information they need come Election Day to decide ... and financial security., (Logo: http://www.newscom.com/cgi-bin/prnh/20070209/NYF043LOGO ...
... Coherent, Inc.,(Nasdaq: COHR ) today announced that ... Board of Directors of The Nasdaq Stock Market ("Nasdaq") ... past due periodic reports,for the year ended September 30, ... the Securities Exchange Commission ("SEC") in order to regain,compliance ...
... VNUS(R) Medical,Technologies, Inc. (Nasdaq: VNUS ), a ... treatment of venous reflux disease, today,announced the appointment ... & Development., Mr. Kamdar joins VNUS with ... medical device industry. Most recently, he served as,Senior ...
Cached Medicine News:Health News:Why do high school seniors drink? 2Health News:Could Hydrogen Sulfide Hold the Key to A Long Life? 2Health News:Could Hydrogen Sulfide Hold the Key to A Long Life? 3Health News:Consumer Reports 'Best Buy Drugs' Compares Best Medicines for Less 2Health News:Consumer Reports 'Best Buy Drugs' Compares Best Medicines for Less 3Health News:Divided We Fail Presidential Side-by-Side to Reach 23M+ AARP Members 2Health News:Coherent, Inc. Reports Decision by the Nasdaq Stock Market 2Health News:Coherent, Inc. Reports Decision by the Nasdaq Stock Market 3Health News:VNUS Medical Technologies Appoints Kirti Kamdar as Senior Vice President of Research & Development 2
(Date:8/28/2015)... 2015 The scientific team of a ... of the leading academics in the field of aging Prof. ... in life extension for model animals - 10 fold for ... and age-related diseases, primarily, around the stability and stress resistance ... published as "Stability analysis of a model gene network links ...
(Date:8/28/2015)... FARUM, Denmark and ATLANTA ... July 31, 2015 the US Food and Drug Administration (FDA) ... Major Depressive Disorder in adult patients who have failed to ... episode. TMS is a non-invasive technique for stimulating neural tissue ... from Major Depressive Disorder. The procedure has been proven safe ...
(Date:8/28/2015)... de agosto de 2015   Royal Philips ... en el  Congreso de la ESC de 2015 ... y novedosas, entre ellas HeartModel A.I.  , EchoNavigator ... y la tecnología con los protocolos de atención ... tratamientos y permitir atención en el hogar. ...
Breaking Medicine Technology:Gero: Physics Meets Biology to Help Defeat Aging 2Gero: Physics Meets Biology to Help Defeat Aging 3Therapy System for Treating Major Depressive Disorder Receives FDA Clearance 2Therapy System for Treating Major Depressive Disorder Receives FDA Clearance 3Philips presenta nuevas soluciones cardiológicas integradas para desarrollar procedimientos menos invasivos 2Philips presenta nuevas soluciones cardiológicas integradas para desarrollar procedimientos menos invasivos 3Philips presenta nuevas soluciones cardiológicas integradas para desarrollar procedimientos menos invasivos 4Philips presenta nuevas soluciones cardiológicas integradas para desarrollar procedimientos menos invasivos 5
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... 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 ...
... 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 ...
Medicine Products: