On the path to better autism treatments

On the path to better autism treatments

Autism, like multiple mental health conditions, has much to do with our genetic make-up. Without doubt, not every child diagnosed with autism is genetically different.

But chances are good that different kids are carrying one or more of a set of rare genes. And, researchers may now have identified a genetic pathway that may hold the key to understanding how such children become autistic.

By focusing on a single chemical reaction, researchers working with the University of California, Berkeley, have solved some genetic mystery that has long puzzled their peers. The key, they say, may be neurogenic stimulation that we can start today.

The discovery, detailed this week in Science Translational Medicine, uncovered a small chemical reaction in a brain molecule called BDNF. It suggests that BDNF plays a key role in early development.


Scientists have studied the role of BDNF in many neurological conditions over the years. It has been linked to autism, attention deficit hyperactivity disorder (ADHD), and schizophrenia. It was previously thought that autism may be a by-product of abnormal BDNF signaling.

But a closer look at a single enzyme linked to BDNF looked for a chemical reaction called BDNF-1. If BDNF-1 doesn’t work properly, doctors think it’s possible that BDNF in our bodies may start to build up too much.

So researchers looked at a bunch of the enzymes that BDNF-1 works with. And they turned up several different compounds.

The scientists discovered that in all those compounds, one was extremely sensitive to activity. If BDNF-1 was under stress, it probably couldn’t get the job done. With BDNF-1 showing up only when the brain is busy, scientists thought that BDNF was a crucial part of our “transmissions system.”

“I’m amazed I’m working here,” said researcher Amit Khera, a professor of molecular, cellular, and developmental biology at UC Berkeley. “We find something that doesn’t really do anything, and in 20 years we’ve figured out how it plays an important role in brain function. There’s a reason to think that this one enzyme, this one pathway, will be a stand-alone.”

Established Psychiatry

Khera’s team spent almost 10 years figuring out the behavior of BDNF-1. They spent a lot of time understanding the structure of the enzyme that caused it to do its work.

The news, however, is cause for celebration, not because researchers have unlocked a cause for autism, but because it could open the door to improved treatments. Khera’s findings shed light on an important neurological disorder.

Studies show that treatments for autism are effective, but they don’t address the underlying causes of the condition. If scientists can identify a set of genes involved in autism, it could open the door to genetic testing. These tests could then help develop better diagnostics and treatments to restore a child’s brain health.

Notably, the process could begin with tests like routine neurogenetic screening, and it would be cheaper than current technologies.

Photo Credit: University of California – Berkeley

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