Navigation Links
First proof of principle for treating rare bone disease
Date:11/9/2011

PHILADELPHIA - Scientists at Penn's Perelman School of Medicine Center for Research in FOP and Related Disorders have developed a new genetic approach to specifically block the damaged copy of the gene for a rare bone disease, while leaving the normal copy untouched.

Lead author Josef Kaplan, PhD, postdoctoral fellow; and senior authors Eileen M. Shore, PhD, and Frederick S. Kaplan, MD, both from the Department of Orthopaedic Surgery, published this new proof-of-principle approach for treating the disease, called FOP, in the online edition of Gene Therapy.

FOP, fibrodysplasia ossificans progressiva, is a rare genetic disorder of progressive extra bone formation for which there is presently no cure. It is caused by a mutation in the gene for ACVR1/ALK2, a bone morphogenetic protein (BMP) receptor that occurs in all classically affected individuals. Individuals who have FOP harbor one normal copy and one damaged copy of the ACVR1/ALK2 gene in each cell. The mutation increases the amount of BMP in cells to greater than normal levels, which initiates the transformation of muscles and cartilage into a disabling second skeleton of bone.

Using a special type of RNA molecule engineered to specifically silence the damaged copy of the gene rather than the normal copy -- a process known as RNA interference, or RNAi -- the scientists restored the cellular function caused by the FOP mutation by ridding cells of the mutant ACVR1/ALK2 mRNA. Cells were essentially left with only normal copies of ACVR1/ALK2 mRNA, thus adjusting the protein's activity to normal, similar to that of cells without the FOP mutation.

The human cells used in the experiments were adult stem cells obtained directly from discarded baby teeth donated by FOP patients. These contained the exact combination of damaged and normal ACVR1/ALK2 receptor proteins found in all classically affected FOP patients worldwide. The discarded teeth were obtained from FOP pediatric patients and normal controls, usually non-affected siblings, in the ongoing "FOP Good Tooth Fairy Program."

The authors caution that the utility of the RNAi approach must be confirmed in mouse models of classic FOP prior to its consideration for human use. Additionally, other hurdles stand in the way of human application at the present time, most notably safe delivery of the small RNA molecules to cells in the human body.

The authors acknowledge that they have a long way to go, but have taken a big first step. "Improvements in RNAi design are advancing at a rapid rate and will enhance the stability, potency, and specificity of inhibitory RNAs, allowing for long-term experiments both in vitro and in vivo," says Shore.


'/>"/>
Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert  

Related medicine news :

1. Medical Training School, Pima Medical Institute Offering First Bachelor's Degree Program
2. Retired Military Brass Support First Ladys Call to Reduce Child Obesity, Improve Nutrition
3. NASBE Supports First Lady Michelle Obama in Fight Against Childhood Obesity
4. PolicyLink CEO Angela Glover Blackwell Released the Following Statement on First Lady Michelle Obamas Childhood Obesity Initiative
5. MSU launches first anti-counterfeiting research program
6. AMA Joins First Lady in Fight Against Childhood Obesity
7. National Wildlife Federation Says Outdoor Time for Kids Can Help First Lady Achieve Her “Let's Move” Goal
8. First blinded study of venous insufficiency prevalence in MS shows promising results
9. Akron Institute of Herzing University Launches Its First Bachelors Degree Programs to Prepare Students for Even Greater Success in Business, Health Care and IT
10. First Gene Variants Linked to Stuttering Discovered
11. FAB-HOMES™ Presents First Passive House Collection
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
First proof of principle for treating rare bone disease
(Date:4/28/2016)... WASHINGTON, D.C., (PRWEB) , ... April 28, 2016 ... ... health systems, and the Campaign for Tobacco-Free Kids, a leading force in the ... to promote federal, state and local policies that can help reduce tobacco use. ...
(Date:4/28/2016)... NJ (PRWEB) , ... April 28, 2016 , ... ... BCBNSNJ), which is has been collaborating with doctors and hospitals to make transformative ... join the world’s leading cell therapy minds this week in discussing breakthroughs in ...
(Date:4/28/2016)... ... ... Amada Senior Care, premier provider of non-medical in-home care and assisted living ... West location. Prior to entering the senior care industry, Amada franchise partner Rick Stockton ... Antonio West will take place on Friday, April 29th. , Rick said ...
(Date:4/28/2016)... ... April 28, 2016 , ... ... the development of miniature microphones and headsets announced today that the US Patent ... of integrating in-earphones into a structure. This innovative design creates a lightweight and ...
(Date:4/28/2016)... , ... April 28, 2016 , ... Metabolic Nutrition ... GlycoLoad at this week’s 2016 Europa Games Get Fit and Sports Expo ... alike, the Europa Orlando Expo coming up April 29-30, was selected as the perfect ...
Breaking Medicine News(10 mins):
(Date:4/28/2016)... NEW YORK , April 28, 2016  The ... reached 275 million dollars, according to Kalorama Information and ... includes typing, immunoassays and nucleic acid testing.  The healthcare ... had made progress in developing blood collection stations and ... was made in Kalorama Information,s report, Blood ...
(Date:4/28/2016)... 28, 2016   Acsis , a leading provider ... IT market research and advisory firm IDC has named ... MarketScape: Worldwide Pharmaceutical Track and Trace Software 2016 Vendor ... an assessment of the capabilities and business strategies of ... market. Logo - http://photos.prnewswire.com/prnh/20160427/360791LOGO ...
(Date:4/27/2016)... , Schweiz, April 27, 2016 ... Sachs CEO Forums in Zürich gab Strekin ... führenden Wirkstoffkandidaten STR001 zur Erhaltung des Resthörvermögens ... wurde, bekannt. Für die umfassende Phase-II-Doppelblindstudie mit ... Frankreich angeworben. STR001 wird während der Operation ...
Breaking Medicine Technology: