Duchenne Muscular Dystrophy: Research
1. Molecular technique using genetic code to restore functioning of dystrophin
Researchers at the University of North Carolina, Chapel Hill, have stumbled on a molecular technique of gene therapy for production of the missing muscle protein which is the critical component responsible for the DMD. The genetic cells of patients suffering from this progressive neuromuscular condition often fail to produce the muscular protein thereby making any muscular functioning difficult and resulting in eventual collapse. In a unique development, a group of scientists headed by Professor Ryszard Kole, Department of pharmacology, UNC, in association with the AVI Biopharma, Washington, has developed a molecular technology using strips of genetic code called antisense oligonucleotides to restore the performance of the defective dystrophin gene. The use of antisense oligonucleotides helps generate the protein and repair muscle functioning. The recent testing trials of this molecular process were done through intravenous administration to 19 patients of DMD with a fairly good response. Future trials, Kole confirmed, are underway to apply the formula to a pill format for easier and faster clinical impact.
2. Satellite cells critical in treating degenerative muscle diseases
In normal adults who go through any process of muscle loss, the muscle is regenerated through a group of specialized cells called as satellite cells. But with age and time the satellite cells become inactive as in the elderly population they seem to be almost absent, thus muscles lose the capacity to regenerate. Similarly, for patients suffering from DMD, in the early stages of muscle loss the satellite cells help rebuild but as they reach their 20s, the process stops to a point that the patient starts developing weakness issues that ultimately lead to death. Researchers at the National Institute of Arthritis and Musculoskeletal and skin diseases have devised to generate a genetic switch to help proliferate these cells and extend their activity period to compensate and increase life expectancy in the patients suffering from DMD. They identified a gene called Ezh2 that is responsible to inspect the going-on of other genes but is seen to relapse with age. In the new research, Ezh2 is tweaked to promote satellite cells considerably, thus enabling muscle generation to a certain extent. Being able to identify the gene is one of the path breaking steps towards finding future therapies to this disease, confirms Dr. Vittorio Sartorelli, the leader of the research team at NIAMS.
Via : nih.gov
3. New age DNA sequencing technique in assessing a realistic picture for DMD patients
Researchers at the University of Nottingham have used a revolutionary technique involving a new DNA-reading technology that could lead to correct genetic diagnosis for muscle degenerating diseases such as DMD. The study demonstrates the power of next generation sequencing of DNA as a diagnostic tool to recommend people suffering from muscular dystrophy a more accurate prognosis removing fear of misguidance and wrong diagnosis. Considering the complex nature of the disease, a genetic diagnosis would help patients more relevant information about their condition and how their condition will progress, that would help them make more informed choices on their life decisions. The accurate reading also provides access to a truthful diagnosis and realistic treatment procedures. This technology will also help DNA sequencing machines and procedure cheaper, faster and help decode an entire human genome in minutes.
4. Biglycan protein to assist motor neurons and muscle buildup
In a research led by Professor Justin Fallon, Department of Neuroscience, Brown University a protein named biglycan has been found that could help prevent the loss of muscle function and help joining nerves to muscles. Tested on rodents suffering from DMD, the presence of this protein was seen to stabilize and fix the loss of synaptic stability in cell culture. Neuromuscular junctions assist the brain to control movement and also maintain well being of both muscle and motor neurons. This study might help support the defective synapse and promote the health of motor neurons and muscle. In duchenne patients, biglycan would possibly help uphold the activity of another natural protein called utrophin, which in turn could work to reduce the muscle deterioration and proxy for dystrophin. Dystrophin is the principal protein that supports muscle build up and is principally absent in DMD patients. These results, as observed by Fallon, although still at their nascent phase, help set the stage for using biglycan as a potential therapy in treating motor neuron disease like DMD.
5. Customized gene therapy for replacing defective genes for muscle protein
In a new experimental trial, researchers at University of North Carolina have found that to correct a patient’s faulty genes there are no longer bound limitations to use viruses found naturally for commandeering a natural system for infecting and introducing new genes into cells. The research group headed by Professor Jude Samulski, Department of pharmacology, Director Gene Therapy Center at UNC, has engineered a way to produce and customize an ideal gene therapy virus in the laboratory. This concept is likely to help people suffering from genetic disorders, like DMD, and can be a very vital step in its treatment. The researchers explained their process and said that for this a small non-pathogenic virus has to be selected and then choose the desired attributes from it so that it could be administered into muscle and further combine them with other attributes to get a chimeric virus. This virus will help repair the genetic code and stimulate muscles within. The researchers are currently considering ways to administer such chimeric virus containing the dystrophin gene, one of the principal causes for the disease, to patients suffering from DMD to yield best therapeutic effects without any unwanted response.