Navigation Links
Friedreich's ataxia -- an effective gene therapy in an animal model
Date:4/6/2014

The transfer, via a viral vector, of a normal copy of the gene deficient in patients, allowed to fully and very rapidly cure the heart disease in mice. These findings are published in Nature Medicine on 6 April, 2014.

Friedreich's ataxia is a severe, rare hereditary disorder which combines progressive neuro-degeneration, impaired heart function and an increased risk of diabetes. The condition affects one in every 50,000 birth. There is currently no effective treatment for this disease. In most cases, Friedreich's ataxia starts in adolescence with impaired balance and coordination (ataxia) of voluntary arm and leg movements, confining the majority of patients to a wheelchair after 10-20 years' progression. However, complications affecting the heart are the major cause of death in 60% of patients, most often before the 35 years of age.

The disease is caused by a common mutation in the FXN gene which leads to a dramatic decrease in the production of the protein named 'frataxin'. The reduced frataxin level disturbs the activity of mitochondria. These organelles are essential to cells and play a fundamental role in energy production. The nerve tissue (cerebellum, spinal cord etc.) and heart tissue are particularly vulnerable to this shortage of energy, which can lead to fatal heart failure.

The teams led by Hlne Puccio, director of research at Inserm and Patrick Aubourg have developed a therapeutic approach based on the use of an adeno-associated virus (AAV)[1], which is known to efficiently target and express a therapeutic gene in heart cells. The virus was modified to make it harmless but nevertheless capable of introducing a normal copy of the FXN gene in the heart cells, thus leading to the expression of frataxin.

Hlne Puccio's team tested the efficacy of this treatment in a mouse model that faithfully reproduces the heart symptoms of patients suffering from Friedreich's ataxia. The results show that a single intravenous injection of AAVrh10 expressing frataxin is not only capable of preventing the development of heart disease in animals before the appearance of symptoms, but also, more impressively, of fully and rapidly curing the hearts of animals at an advanced stage of heart disease. After three weeks of treatment, the heart become fully functional again; mitochondrial function and the appearance of heart tissue being very similar to those of healthy mice. "This is the first time that gene therapy has prompted full, lasting remission of heart disease so quickly in an animal model." explains Hlne Puccio.

As the central nervous system is also a target of AAV vectors, Hlne Puccio and Patrick Aubourg's teams are investigating whether a similar approach using gene therapy could be as effective for the spinal cord and cerebellum as it is for the heart.

Based on these promising results, work has begun on the necessary developments to propose to patients suffering from Friedreich's ataxia and presenting a progressive cardiomyopathy a treatment by gene therapy. To this end, three of the paper's authors have set up AAVLife, a French company specialising in gene therapy for rare diseases, to translate to clinic these important laboratory findings. A patent application has been submitted by Inserm Transfert for this gene therapy approach.


'/>"/>

Contact: Hélène Puccio
hpuccio@igbmc.fr
33-388-653-264
INSERM (Institut national de la sant et de la recherche mdicale)
Source:Eurekalert  

Related biology news :

1. New gene therapy strategy boosts levels of deficient protein in Friedreichs ataxia
2. Interferon-beta aids balance and movement in mice with spinocerebellar ataxia 7
3. Patients and scientists join forces to tackle Friedreichs Ataxia
4. International patient alliance to fund Spanish Friedreichs ataxia gene-therapy project
5. More effective method of imaging proteins
6. New discovery may lead to effective prevention and treatment of graft-versus-host dsease
7. Urgent research needed to determine most effective follow-up care for lung cancer patients
8. As deadly cat disease spreads nationally, MU veterinarian finds effective treatment
9. Lab tests show arthritis drug effective against global parasite
10. Novel discovery by NUS scientists paves the way for more effective treatment of cancers
11. An economical, effective and biocompatible gene therapy strategy promotes cardiac repair
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Friedreich's ataxia -- an effective gene therapy in an animal model
(Date:3/1/2017)... , March 1, 2017  Aware, Inc. (NASDAQ: AWRE), ... that Richard P. Moberg has resigned, effective ... and Chief Financial Officer and Treasurer of Aware citing ... serve as a member of the Board of Directors ... Aware,s co-Chief Executive Officer and co-President, General Counsel has ...
(Date:2/26/2017)... , Feb. 25, 2017  Securus Technologies, ... technology solutions for public safety, investigation, corrections and ... Recidivism and Reentry. "Too often, too ... prisons and county jails are trying to tackle ... inmates and friends and family members. While significant steps ...
(Date:2/16/2017)... , Feb. 16, 2017  Genos, a ... announced that it has received Laboratory Accreditation from ... Accreditation is presented to laboratories that meet stringent ... demonstrate scientifically rigorous processes. "Genos is ... in laboratory practices. We,re honored to be receiving ...
Breaking Biology News(10 mins):
(Date:3/23/2017)... March 23, 2017 NetworkNewsWire Editorial Coverage  ... Cancer ... significant strain on health care systems, in terms of costs ... so too does the development of innovative and efficient therapies ... Among the many types of cancer treatments, a growing number ...
(Date:3/23/2017)... ... 23, 2017 , ... Advanced Polymer Monitoring Technologies (APMT), a ... “Sig” Floyd as Vice President ? Global Business Development. Dr. Floyd will lead ... Floyd’s career has spanned 30 years in the chemicals and equipment industries. Sig ...
(Date:3/22/2017)... 2017  UBM and the Massachusetts Medical Device ... partnership and the third annual Massachusetts Medtech Week. Massachusetts ... st Annual MassMEDIC Conference held in conjunction ... 2017. MassMEDIC will feature a ... and CEO, Scott Whitaker , at its ...
(Date:3/22/2017)... ALBANY, New York , March 22, 2017 /PRNewswire/ ... market is largely fragmented, states a research report by ... Sanofi S.A., Pfizer Inc., Amgen Inc., and AbbVie Inc., ... market in 2015. The prominent players in this market ... to expand their product portfolio, which is likely to ...
Breaking Biology Technology: