Research Suggests that DMD Begins in Myoblasts

In the past, myofibers (terminally differentiated post-mitotic cells that help make up muscle tissue) have been implicated in the development and progression of Duchenne muscular dystrophy (DMD). Basically, researchers have found that myofibers are unable to properly regenerate due to a lack of dystrophin. However, shares an article in Lab Roots, changes related to DMD may actually begin earlier in myoblasts, the precursor to myofibers.

Within this particular study, researchers noted that DMD affects myofibers and muscle stem cells. But to what length were myoblasts affected? To perform their study, the research team used transcriptomic, genome-scale metabolic modeling and functional analyses. The study, published in eLife, shares:

In Dmdmdx myoblasts lacking full-length dystrophin, the expression of 170 genes was significantly altered…these results reveal the disease continuum: DMD defects in satellite cells, the myoblast dysfunction affecting muscle regeneration, which is insufficient to counteract muscle loss due to myofiber instability. Contrary to the established belief, our data demonstrate that DMD abnormalities occur in myoblasts, making these cells a novel therapeutic target.

These findings show promise in many ways. First, this could present a new therapeutic target, increasing the ability to create treatment options for those living with Duchenne muscular dystrophy. These findings also provide more insights about the disease to scientists. Finally, the research suggests that DMD-related abnormalities could begin during embryonic development. If this is accurate, it could lead to earlier diagnosis and therapeutic interventions. This could also provide a jumping off point for researchers to identify potential ways to slow disease progression.

What is Duchenne Muscular Dystrophy (DMD)?

Altogether, nine forms of muscular dystrophy exist; Duchenne muscular dystrophy is one of them. This genetic disorder, inherited in an X-linked autosomal recessive pattern, results from genetic mutations which cause someone to lack enough dystrophin, a type of protein. Normally, dystrophin plays a role in muscle strength and function. Without enough dystrophin, muscles weaken. 1 in every 3,500 males, and 1 in 50 million females, is born with DMD. Typically, symptoms appear before six years old. These symptoms can (but do not always) include:

  • Difficulty walking, running, jumping, or moving positions
  • Frequent tripping and falling
  • Fatigue
  • A waddling gait
  • Lumbar lordosis (inward curve of the spine)
  • Learning disabilities
  • Motor skills difficulty
  • Progressive muscle weakness that begins in the legs, pelvis, and thighs before spreading
  • Respiratory insufficiency or cardiomyopathy

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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