New Findings Might Help in Developing Better Drugs for Autism

Experts have pinpointed a gene mutation in a subset of individuals with autism that prevents the development of brain connections and reduces brain activity – a finding that could result in new drugs to treat autism at its core. This new research is lead by Karun Singh from Canada and ┬áMichael G. DeGroote from McMaster.

Since the early 2000’s, the occurrence of autism in the United States has increased by nearly 120 %, with 1 in 68 kids now impacted by the developmental disorder.

Characterized by repetitive behaviors and issues with communication and social skills, autism is about 4.5 times more prevalent among male children than female children.

Autism onset happens prior to the age of 3 years and continues during a person’s lifetime. Some kids may show signs of the condition in the initial few months of life, while for others, signs may not show up till 2 years or later.

There is presently no cure for autism or therapies that deal with the core symptoms, only behavioral therapies and drugs that may enhance functioning.

However, investigators from McMaster University in Canada think they may be one step closer to the advancement of medicines that could fight autism at its root, after figuring out how mutations in a gene known as DIXDC1 damage the development of synapses and prevent brain activity.

Synapses are structures that allow signaling in between nerve cells. Impairment of this signaling can affect regular functioning, which can result in developmental and behavioral issues.

DIXDC1 gene mutation decreases synapse formation, and brain activity.

For their research, lead investigator Karun Singh and Michael G. and colleagues performed a genetic analysis of people with autism.

In a subset of individuals with the condition, the investigators recognized irregularities in the DIXDC1 gene that stop the DIXDC1 protein from instructing brain cells to form synapses.

In depth, the investigators identified that some people with autism possess mutations that lead to the DIXDC1 gene to be “switched off,” which means synapses stay immature and brain activity is decreased.

The investigators are optimistic that their results, published in Cell Reports, will advance the growth of new drugs that treat the core symptoms of autism.

Commenting on their findings Karun Singh says,

“Because we determined why DIXDC1 is switched off in some types of autism, my lab at the SCCRI, which specializes in drug discovery, now has the chance to begin the looking for medicines that will turn DIXDC1 back on and appropriate synaptic connections. This is interesting because this type of drug would offer a possibility to be a new therapy for autism.”