Researchers from the Universities of Nottingham and Exeter have discovered a new, possible treatment method for Duchenne muscular dystrophy (DMD). Their research demonstrated that treating hydrogen sulfide (H2S) deficiency in the muscles could lead to improvements in muscle function. As steroids, which are commonly used to treat DMD, can lead to harmful side effects, it is important that new therapies are being created for this rare condition.
About DMD
Duchenne muscular dystrophy is one of the nine forms of muscular dystrophy. Affected individuals experience progressive muscle weakness and wasting due to a lack of dystrophin. Symptoms include issues with motor skills, muscle weakness, falling, fatigue, issues with changing positions, problems walking, learning disabilities, and eventually heart disease and respiratory failure. All of these effects are caused by a mutation passed down on the X chromosome in a recessive pattern. This is why males are more likely to be affected than females. There is currently no cure for this condition, but treatments can help to manage symptoms.
DMD Research
Dr. Nate Szewczyk and Dr. Matt Whiteman led the research efforts to treat a mutated or missing dystrophin gene through the use of a C. elegans DMD model and mouse models. The latter experienced issues with movement, gait, and mucle strength, along with mitochondrial defects in the muscles, low levels of H2S, and decreased levels of the enzymes that generate this gas in the muscles. This way, the mouse models were able to best represent the human form of Duchenne muscular dystrophy.
While studying the two models of the disease, researchers noticed that H2S kept organisms healthy while they grew and improved their survival rates. It is this data that implicated a metabolic H2S deficiency, which also plays roles in other rare diseases, like phenylketonuria.
Once the researchers had made this discovery, they began to look into ways to treat the deficiency. They used a compound that released hydrogen sulfide, sodium GYY4137, and found that it not only replaced the lack of H2S, but it was able to fix a number of mitochondrial and muscle defects as well. This data encouraged them to try another therapy, this time a compound called AP39. It produced the same results, but at a much lower dose.
Looking Forward
This data is very exciting for both medical professionals and patients. If proven to be a viable treatment, this compound could replace the need for steroids in DMD care. Currently, long-term use of steroids can result in a less potent effect after an extended period of time and side effects. Replacing these drugs with safer alternatives could improve patient quality of life.
Additionally, the breakthroughs made by this research team will aid future research and drug development efforts. They led to a better understanding of the disease’s pathology. Further research will be conducted to fully comprehend hydrogen sulfide’s role in the onset and progression of DMD.
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