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
Gene therapy shows promise for treating Niemann-Pick disease type C1
27.10.2016 | NIH/National Human Genome Research Institute
'Neighbor maps' reveal the genome's 3-D shape
27.10.2016 | International School of Advanced Studies (SISSA)
Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.
This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
27.10.2016 | Materials Sciences
27.10.2016 | Physics and Astronomy
27.10.2016 | Life Sciences