Monday

Discovery: Scientists ‘switch off’ autism symptoms using $3 epilepsy drug

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By Adriana Diaz

Scientists are reporting a breakthrough discovery: A $3-per-pill epilepsy drug may be used to “switch off” autism symptoms in mice, according to a new peer-reviewed study published Tuesday in Molecular Psychiatry journal.

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

A team of experts at Germany’s Hector Institute for Translational Brain Researchfound that the medication lamotrigine — an anti-seizure drug first approved for use in the US in 1994 — was able to curb behavioral and social problems linked to the disorder.

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, which is sold under the brand name Lamictal, among others, is a medication used to treat epilepsy and stabilize mood in those who suffer from bipolar disorder.

The drug, which typically sells for just under $3 per pill, works by reversing changes to brain cells caused by a genetic mutation.

Scientists have spent years searching forthe molecular abnormalities that contribute to ASD and have identified MYT1L protein as one that plays a role in various neuronal diseases. 

The protein is a so-called transcription factor produced by almost all the nerve cells in the body that decides 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 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 the MYT1L-deficient neurons produced extra sodium channels that are typically restricted to cells in the heart muscle. 

These proteins are critical 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.

These promising results come as autism rates have skyrocketed in the NYC metro area. Autism diagnoses have tripled in the New York-New Jersey metro area: from 1% of the population in 2000 to 3% in 2016

It is believed that part of the drastic increase of these diagnoses is due to the growing number of diagnoses of children without intellectual disabilities, which are therefore less likely to have been identified previously.

But earlier, more accurate diagnoses don’t completely explain the upward trend, which was based on estimates from the CDC. Experts have warned that the growing trend of women giving birth later in life may be partly responsible for the rise. 

Meanwhile, clinical human trials studying lamotrigine’s impact on MYT1L are being planned — and while the research is currently limited to mice, the results are promising, researchers stressed.

SOURCE:  NYP

Tuesday

Tesla Full Self-Driven Almost Crashes

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