The research has delved into the molecular mechanisms causing neurological alterations associated with myotonic dystrophy type 1 (DM1), a genetic disease for which there is currently no cure. The study, led by Rubén Artero and involving Dr. Ariadna Bargiela and Dr. Javier Poyatos García from INCLIVA, has identified a potential therapeutic target.
DM1 is the most common form of muscular dystrophy in adults and affects both muscle and the nervous system, causing progressive muscle weakness, myotonia, and cardiac and cognitive impairments. It is estimated to affect one in every 8,000 people.
Researchers used an experimental model in Drosophila melanogaster (fruit fly) to study how expanded CUG repeats associated with DM1 alter synaptic function and locomotor behavior. They evaluated the impact on neuromuscular junction and behavior.
The results, published in Nature Communications, indicate that the overexpression of the adhesion molecule FasII (equivalent to NCAM1 in humans) plays a key role in synaptic and behavioral alterations. The reduction or modulation of this molecule was able to reverse the defects, identifying it as a potential therapeutic target.
The study also involved Dr. Juan J. Vilchez, an honorary researcher at the Universitat de València, and other researchers from INCLIVA and CIBERER.
