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Vidal-Gadea Lab
Vidal-Gadea Lab
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​Duchenne Muscular Dystrophy​ (DMD) is a genetic disorder affecting 1 in 3,500 male births. It is caused by a mutation in the dystrophin gene, one of the longest genes in the human genome. Dystrophin is involved in the transmission of the force generated during muscle activity. Defective dystrophin proteins lead to muscle damage and failure. The nematode C. elegans uses dystrophin in much the same way humans do. As such, these tiny worms afford us the opportunity to study DMD with the unparalleled experimental ease associated with the study of these organisms.
​The nematode Caenorhabditis elegans has been a powerful model system for the study of key muscle genes relevant to human neuromuscular function and disorders. In their natural habitat, C. elegans likely spends much of the time burrowing through the soil matrix. We developed a burrowing assay to challenge motor output by placing worms in agar-filled pipettes of increasing densities and found that burrowing involves distinct kinematics and turning strategies from crawling that vary with the properties of the substrate. Mutants mimicking Duchenne muscular dystrophy by lacking a functional ortholog of the dystrophin protein, DYS-1, crawl normally but are severely impaired in burrowing. Muscular degeneration in the dys-1 mutant is hastened and exacerbated by burrowing, while wild type shows no such damage (figure). Our students performed a genetic screen using dys-1 worms and isolated several suppressor mutants with proficient burrowing despite their dys-1 mutant background. 

Present work in our lab is focusing on identifying the molecular mechanisms by which muscles become impaired during the progression of DMD, particularly in response to muscular exertion; identifying the mutations responsible for the rescue of the dys-1 phenotype observed in suppressor mutants, and identifying novel and conserved molecular targets that may contribute to the alleviation of the symptoms of this devastating disease.  

Further study of burrowing in C. elegans will enhance the study of diseases affecting neuromuscular integrity, and will provide insights into the natural behavior of this and other nematodes.​

Kiley Hughes (PhD) and Monica Tamrazi (MS) are our graduate team working on the Duchenne muscular dystrophy.

Undergraduate and high school researchers:


This research is funded by The National Institute of Arthritis and Musculoeskeletal and Skin Disorders (1R15AR068583-01A1).