WASHINGTON (AFP) - Scientists have demonstrated that a combination of stem cell and gene therapy can be used to correct the devastating hereditary disease of muscular dystrophy, according to a new study published Wednesday.
Working with mice but using human cells, a team led by Yvan Torrente of the University of Milan, Italy showed that they could spark the most common form of the muscle-wasting disease, Duchenne muscular dystrophy (DMD), and then reverse it, offering hope to millions of sufferers world-wide.
They also showed that a DMD sufferer's own cells might be used for the therapy, reducing the possibility of rejection.
DMD is a hereditary affliction in which the gene which helps synthesize the key muscle protein dystrophin is mutated. Dystrophin is essential to preventing damage to the muscles as they are used, and so with the presence of the defective gene, its production is disturbed and the muscles deteriorate.
In their experiment, Torrente and his team obtained muscle stem cells, labelled CD133+, from human DMD patients. The cells were implanted into mice where they generated defective muscle tissue resembling that in the human DMD patients.
The researchers then took more muscle stem cells from the humans and repaired the damaged dystrophin gene in them, so that dystrophin production would be normalized.
Those cells were implanted in the same mice, and began producing healthy muscle tissue, helping the mice begin to recover from the induced DMD.
"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," Torrente said in a summary of the research.
"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," he added.
The research is published in the December issue of the journal Cell Stem Cell.