Autism , characterized by repetitive behaviors and communication and social skills problems, is around 4.5 times more common among boys than girls . The onset of this disease starts before the age of 3 and manifests itself throughout life.
There is currently no cure for autism . However, a team of researchers from McMaster University (Canada) believes they are one step closer to the development of drugs that could combat autism at its roots, after identifying how mutations in a gene called DIXDC1 impair the growth of synapses and they impede brain activity.
Scientists – from the Cancer and Stem Cell Research Institute and the Michael G. DeGroote School of Medicine at McMaster University (USA) – conducted a genetic analysis of a group of individuals with autism , identifying a number of variables in the DIXDC1 gene that hindered the DIXDC1 protein from instructing brain cells to form synapses. Thus, this mutation of the DIXDC1 gene reduces synapse formation, brain activity . Furthermore, in some people with autism the gene is directly “switched off”, so the synapses remain immature and brain activity is reduced.
“Because we have identified why DIXDC1 turns off in some forms of autism, my lab at SCCRI, which specializes in drug discovery, now has the opportunity to begin the search for drugs that will turn DIXDC1 back on and correct synaptic connections. It’s exciting because that drug would have the potential to be a new treatment for autism, ”explains Karun Singh, leader of the work.
While the DIXDC1 gene mutation is only found in a small number of individuals with autism and other psychiatric disorders associated with this condition, the team commented that there are other autism-related gene mutations that impair synaptic development, “so Therefore, the key to a new treatment for autism will be to find safe drugs that restore the growth and activity of brain synapses, ”concludes Singh.
The study has been published in the journal Cell Reports.
