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:1/24/2017)... ... January 24, 2017 , ... OMI Industries, a worldwide leader ... distribution partnership with Byers Scientific & Manufacturing , a leading designer, engineer ... agreement, OMI Industries formulated a special version of Ecosorb® for Byers Scientific & ...
(Date:1/24/2017)... ... January 24, 2017 , ... Providing solutions ... new report from the Frank Hawkins Kenan Institute of Private Enterprise ... academics and policy makers identified concrete solutions at the “What’s Next, America?” conference ...
(Date:1/24/2017)... Pass, OR (PRWEB) , ... January 24, 2017 ... ... Gerald H. Pollack, Ph.D., http://www.faculty.washington.edu/ghp , Sharon Kleyne, the nation’s foremost ... of Water, Global Climate Change and Your Health on Voice America, once again ...
(Date:1/24/2017)... ... ... “Speaking With God’s Voice”: a resolute and spirited call for anointed preaching in ... Miraglia, a born-again believer, who spent his years teaching high school and Sunday-school, and ... is little doubt that God Himself prepared me for this study, and God’s messengers ...
(Date:1/24/2017)... ... January 24, 2017 , ... “The Octagon of Spiritual Balances”: a ... Balances” is the creation of published author, Pastor Bernard J. Weathers, pastor of Word ... bachelor degree in religious education and a master degree in theology. , ““The Octagon ...
Breaking Medicine News(10 mins):
(Date:1/24/2017)... , January 24, 2017 Analysis of the ... Liquid Biopsies - our new study reveals trends, R&D ... heading? If you are involved in this sector you must read ... potential revenues streams to 2027, assessing data, trends, opportunities and business ... Discover ...
(Date:1/24/2017)... Sweden , Jan. 24, 2017 Results ... target dose compared with linac-based radiotherapy platforms ... better spares healthy brain tissue and delivers a higher radiation ... evaluating patients undergoing radiosurgery for large or complex brain tumors, ... . ...
(Date:1/24/2017)... , Jan. 24, 2017 Sherpa Clinical ... materials management services, is pleased to announce the ... Kevin joins the Sherpa team to lead Sherpa,s ... level of service excellence. Kevin is ... pharmaceutical manufacturing industries. He has extensive experience working ...
Breaking Medicine Technology: