Exciting Discovery in Autism Research

Researchers from Yale University have made an interesting find: a low-cost prescription medication already on the market may help alleviate symptoms of autism spectrum disorder (ASD) for some individuals.

You might be wondering if it’s leucovorin, a vitamin B-derived drug often mentioned as a potential treatment. Well, it’s not that.

In their study, the researchers created a database of 774 FDA-approved drugs and examined how they impacted the behavior of genetically modified zebrafish exhibiting autism-like traits.

This choice of test subject seems a bit odd, but zebrafish have actually become incredibly valuable in scientific research lately.

Humans and zebrafish share about 70% of the same genes, and approximately 84% of genes associated with human diseases have counterparts in zebrafish, making them a reliable model for studying conditions from muscular dystrophy to epilepsy.

From the initial pool of 774 medications, researchers filtered down to 520 non-toxic drugs that showed notable effects on zebrafish behavior.

Among these, one particular drug caught their eye as a potential treatment for ASD. It’s called levocarnitine, marketed under the brand name Carnitor, which is primarily used to address low carnitine levels—where the body struggles to convert dietary fat into energy.

However, in this analysis, levocarnitine showed potential beyond its usual application, costing only about 44 cents per pill.

Researchers found that the drug helped restore more typical functions in zebrafish with mutations in two significant genes linked to brain development and autism traits, SCN2A and DYRK1A.

It appeared to “reverse” some disruptive behaviors, while also encouraging a more balanced metabolism and typical brain activity patterns.

But there is, perhaps, a slight catch.

While mutations in SCN2A and DYRK1A are recognized risk factors for ASD, they are relatively uncommon across the entire autism population.

In fact, estimates suggest SCN2A may account for about 1 in 333 cases, and fewer than 1% of diagnosed individuals likely have DYRK1A mutations.

This means that levocarnitine might provide benefits to only a small subset of individuals with specific genetic mutations.

Nonetheless, the Yale team emphasizes the significance of investigating known autism risk genes—over 800 of which have been identified—in the search for new treatments.

They are optimistic that their open-source database of tested medications will facilitate future breakthroughs.

Dr. Ellen Hoffman, a psychiatric geneticist and one of the study’s senior authors, noted, “Our findings lay the groundwork for investigating these drug mechanisms as potential targets for individuals carrying mutations in select autism risk genes.”

This research emerges during a notable rise in ASD cases in the US.

Recent statistics show the diagnosis rate jumped from 1 in 150 children in 2000 to 1 in 31 by 2022. Adults aged 26 to 34 have also seen a 450% increase in diagnoses from 2011 to 2022.

Experts believe this increase is largely due to broader diagnostic criteria, improved screening methods, and heightened awareness.

Symptoms of autism can encompass challenges in making eye contact, communication difficulties, trouble reading emotions, issues with friendships, repetitive behaviors, intense interests in specific objects, and sensory sensitivities.

For now, there are no medications that cure ASD or universally effective treatments for its symptoms.

The Yale researchers advise caution against using levocarnitine as a treatment just yet, as human testing is still necessary.