A research team from the Gene Therapy Laboratory (Institute of Molecular Biology and Biotechnology, AMU) and the University of Nevada, Las Vegas, has published groundbreaking results in the prestigious journal Nature Neuroscience.
The research, conducted by Prof. Krzysztof Sobczak, Adam Ciesiołka, PhD, and Katarzyna Taylor, PhD, from the AMU and project leader Lukasz Sznajder, PhD, from the University of Nevada, Las Vegas, revealed that individuals with myotonic dystrophy type 1 (DM1) may be more likely to experience symptoms of the autism spectrum. For the first time, biologists have described a possible molecular mechanism for this relationship.
A defective RNA fragment that accumulates in cells of people with DM1 appears to disrupt the normal function of proteins responsible for “folding” genetic information. The result is interference with genes associated with brain development, including genes associated with autism.
This discovery breaks new ground in treating the neuropsychiatric symptoms of DM1, not just its muscular symptoms.
Read the Article: Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes
Photo: Prof Krzysztof Sobczak, author: Adrian Wykrota