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:9/22/2017)... PITTSBURGH, PA (PRWEB) , ... September 22, 2017 ... ... as soon as possible, and they often saves lives. However, if one isn’t ... order to widen the availability of defibrillation, I came up with this idea," ...
(Date:9/22/2017)... ... 22, 2017 , ... After a long health ordeal that ... lease on life with assistance from CreditAssociates. CreditAssociates provides debt relief and debt ... debt. The senior is one of the satisfied clients who expressed their appreciation ...
(Date:9/22/2017)... ... September 22, 2017 , ... Happy Living’s mission - to improve ... carries it into the entertaining and delicious worlds of theatre and wines. , ... Living) convinced him to turn his play into a book. The Greener The Grass ...
(Date:9/22/2017)... ... September 22, 2017 , ... TopConsumerReviews.com ... by Native Remedies that helps promote pancreatic health and regulate blood sugar ... some prescription-based approaches can have negative side effects, and with the changes in ...
(Date:9/22/2017)... ... September 22, 2017 , ... ... brush more effectively even on the go. Their electric toothbrushes aggressively attack oral ... inflammation, with UV sanitizing technology. Combining leading edge Enke technology with a premium ...
Breaking Medicine News(10 mins):
(Date:9/12/2017)... , Sept. 12, 2017  Consumer reviews on the independent ... as the number one company for hearing aids, ranking it ... fifteen other brands. ... Hearing Named #1 by Consumers For Hearing Aids ... Embrace Hearing is an online store that provides high performance, ...
(Date:9/7/2017)... 7, 2017  Eli Lilly and Company (NYSE: ... streamline operations to more efficiently focus resources on ... structure. Global workforce reductions, including those from a ... impact approximately 3,500 positions. With ... savings of approximately $500 million that will begin ...
(Date:9/7/2017)... , Sept. 7, 2017   BioLife Solutions , ... and marketer of proprietary clinical grade cell and tissue ... announces that Mike Rice , President and CEO, will ... Rodman & Renshaw 19 th Annual ... Eastern time (12:25 p.m. Pacific time). The conference is being ...
Breaking Medicine Technology: