Scientists ‘Switch Off’ Autism Symptoms Using $3 Epilepsy Drug: Discovery

Scientists may have made a breakthrough discovery in a new peer-reviewed study published Tuesday in the Molecular Psychiatry journal, and a $3-per-pill epilepsy drug may be used to “switch off” autism symptoms in mice. 

Autism spectrum disorder is a complex developmental condition that impacts an estimated 5.4 million (2.2% of) adults and one in 44 children in the United States. It is often accompanied by a condition such as epilepsy or hyperactivity, according to data from the Centers for Disease Control and Prevention.

A team of experts at Germany’s Hector Institute for Translational Brain Research found that lamotrigine, a drug meant to prevent seizures that was first approved for use in the U.S. in 1994, was able to curb behavioral and social problems linked to the disorder in mice. 

Now, their findings are being hyped as the closest thing yet to a potential cure for humans.

“Apparently, drug treatment in adulthood can alleviate brain cell dysfunction and thus counteract the behavioral abnormalities typical of autism,” lead researcher and cellular biologist Moritz Mall said in a statement. “[This occurs] even after the absence of MYT1L has already impaired brain development during the developmental phase of the organism.”

Lamotrigine, often sold under the brand name Lamictal, is a medication used to treat epilepsy and stabilize mood in those who suffer from bipolar disorder. The drug typically sells for just under $3 per pill and works by reversing changes to brain cells caused by a genetic mutation. 

Scientists have spent years searching for the molecular abnormalities that contribute to ASD and have identified that MYT1L protein as one that has a part in various neurodivergent conditions. 

The protein is a transcription factor, produced by almost all nerve cells in the body, which determines which genes are or are not active in the cell. 

It also “protects the identity of nerve cells by suppressing other developmental pathways that program a cell towards muscle or connective tissue.” 

Mutations of the protein have previously been linked to other neurological diseases and brain malformations. 

To test the impact of the protein on autism symptoms, researchers at HITBR genetically “switched off” MYT1L in mice and human nerve cells. They found that this led to electrophysiological hyperactivation in the mouse and human neurons impairing nerve function. 

The mice lacking MYT1L suffered from brain abnormalities and showed several behavioral changes typical to ASD, such as social deficits or hyperactivity.

Researchers noted that the most “striking” reaction was the discovery that MYT1L-deficient neurons produced extra sodium channels, which is typically only observed in cells in the heart muscle. These proteins are important for electrical conductivity and cell function as they allow sodium ions to travel through the cell membrane.

Nerve cells that overproduce these sodium channels can result in electrophysiological hyperactivation — a common symptom of autism.

“When MYT1L-deficient nerve cells were treated with lamotrigine, their electrophysiological activity returned to normal. In mice, the drug was even able to curb ASD-associated behaviors such as hyperactivity,” the statement continued. 

The results come as autism rates have tripled in the New York-New Jersey metro area and throughout the country. Part of the drastic increase may stem from the growing number of diagnoses of children without intellectual disabilities, which are less likely to have been identified previously.

However, more accurate diagnoses may not completely explain the upward trend, and some experts believe that the growing trend of women giving birth later in life may be partly responsible for the rise. 

Researchers believe that, even though the study is currently limited to mice, the results are promising, and they are planning clinical human trials studying lamotrigine’s impact on MYT1L.