Duchenne muscular dystrophy (DMD) is a hereditary disease caused by a mutation in the gene that codes for a muscle protein called dystrophin. Dystrophin is a key structural protein that helps to keep muscle cells intact. DMD is characterized by a chronic degeneration of skeletal muscle cells that leads to progressive muscle weakness. Although intense research has focused on finding a way to replace the defective dystrophin protein, at this time there is no cure for DMD.
A research group led by Dr. Yvan Torrente from the University of Milan used a combination of cell- and gene-based therapy to isolate adult human stem cells from DMD patients and engineer a genetic modification to correct the dystrophin gene. “Use of the patient’s own cells would reduce the risk of implant rejection seen with transplantation of normal muscle-forming cells,” explains Dr. Torrente.
Muscle stem cells, identified by expression of the CD133 surface marker, were isolated from normal and dystrophic human blood and skeletal muscle. The isolated human muscle progenitors were implanted into the muscles of mice and were successfully recruited into muscle fibers. As expected, the CD133+ cells isolated from DMD patients expressed the mutated gene for dystrophin and gave rise to muscle cells that resembled muscle fibers in DMD patients.
The researchers then used a sophisticated genetic technique to repair the mutated dystrophin gene in the isolated DMD CD133+ cells so that dystrophin synthesis was restored. Importantly, intramuscular or intra-arterial delivery of the genetically corrected muscle cell progenitors resulted in significant recovery of muscle morphology, function, and dystrophin expression in a mouse model of muscular dystrophy.
“These data demonstrate that genetically engineered blood or muscle-derived CD133+ cells represent a possible tool for future stem cell-based autograft applications in humans with DMD,” says Dr. Torrente. The authors caution that significant additional work needs to be done prior to using this technology in humans. “Additional research will substantially enhance our understanding of the mechanisms underlying this effect and may lead to the improvement of gene and cell therapy strategies for DMD.”
Cathleen Genova | alfa
Fish recognize their prey by electric colors
13.11.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn
The dawn of a new era for genebanks - molecular characterisation of an entire genebank collection
13.11.2018 | Leibniz-Institut für Pflanzengenetik und Kulturpflanzenforschung
Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.
Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...
Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.
In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...
On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.
When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure
Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...
Physicists at ETH Zurich demonstrate how errors that occur during the manipulation of quantum system can be monitored and corrected on the fly
The field of quantum computation has seen tremendous progress in recent years. Bit by bit, quantum devices start to challenge conventional computers, at least...
09.11.2018 | Event News
06.11.2018 | Event News
23.10.2018 | Event News
13.11.2018 | Life Sciences
13.11.2018 | Life Sciences
13.11.2018 | Awards Funding