Researchers find promising lead that reduces autism symptoms and more

March 8, 2017, Michigan State University
Wang, MSU physiologist, and a team of researchers have found a promising lead that reduces autism symptoms and more. Credit: MSU

Fragile X syndrome is the most common cause of autism. Even though the single gene that's responsible for it was discovered in 1991, and the disease is detected by a simple blood test, there's no treatment or cure.

A team of researchers led by Michigan State University, however, has provided a promising lead in battling this disease. In the current issue of Nature Communications, the scientists identified a single protein that appears to be the culprit in causing many behavioral symptoms as well as molecular and cellular abnormalities related to Fragile X.

"We began with 600-800 potential protein targets, searching for the equivalent of a needle in a haystack," said Hongbing Wang, MSU physiologist and study co-author. "Our needle turned out to be ADCY1. When we compared levels of this protein in Fragile X to normal controls, we saw a 20-25 percent increase of ADCY1."

Subsequent tests of the team's prime-target protein on the Fragile X mouse model revealed four key results. First, by reducing the expression of ADCY1, the team eliminated many autism-like behaviors. Second, the protein's increased expression caused increased signaling in neurons. By reducing levels of ADCY1, the team dampened neuron signaling to levels within a normal range.

Lastly, neurons associated with Fragile X have excessive dendritic spines, or bumps, when compared to those in healthy patients. Reduction of the rampant protein also resulted in improving the appearance of the neurons.

Finding a single target that's responsible for so many of the causes makes the research attractive to pharmaceutical companies, Wang said.

"Our research has identified a key target and a new approach that could easily be pursued by ," he said. "We've shown an accessible target that, through treatment using NB001, suppresses activity. The next steps would be to test toxicity and optimization."

NB001, an experimental compound that also holds potential as a painkiller, delivered positive preliminary toxicity tests as well as demonstrated the ability to pass the , the protective membrane separating the bloodstream from brain extracellular fluid.

Although the study revealed a critical target and potential medicine, the findings are still years away from being considered for human clinical trials, Wang added.

In addition to potential drug development for adults, future studies could focus on children. Since the team studied adult mice, the question of catching the problem at an earlier age has yet to be addressed. If caught at an early age by a blood test, could the disease be stopped before symptoms surfaced?

Explore further: New explanation offered for symptoms of fragile X syndrome

Related Stories

New explanation offered for symptoms of fragile X syndrome

September 20, 2016
Until recently, scientists thought they understood one of the underlying causes of fragile X syndrome, the most common inherited cause of intellectual disability in the United States. The syndrome, which is associated with ...

Study implicates glial cells in fragile X syndrome

October 4, 2016
Research on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing on a different type ...

Study shows early brain changes in Fragile X syndrome

January 31, 2017
A new study led by scientists at The Scripps Research Institute (TSRI) is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe ...

Potential target pathway may pave the way for new therapeutic approaches for fragile X syndrome and autism

July 16, 2015
Scientists at VIB and KU Leuven have discovered that the protein APP plays a significant role in the development of fragile X syndrome (FXS) at young stages. They identified an unexpected biological pathway as a promising ...

Fragile X proteins involved in proper neuron development

June 10, 2015
Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.

Recommended for you

Brain zaps may help curb tics of Tourette syndrome

January 16, 2018
Electric zaps can help rewire the brains of Tourette syndrome patients, effectively reducing their uncontrollable vocal and motor tics, a new study shows.

Researchers identify protein involved in cocaine addiction

January 16, 2018
Mount Sinai researchers have identified a protein produced by the immune system—granulocyte-colony stimulating factor (G-CSF)—that could be responsible for the development of cocaine addiction.

A 'touching sight': How babies' brains process touch builds foundations for learning

January 16, 2018
Touch is the first of the five senses to develop, yet scientists know far less about the baby's brain response to touch than to, say, the sight of mom's face, or the sound of her voice.

New study reveals why some people are more creative than others

January 16, 2018
Creativity is often defined as the ability to come up with new and useful ideas. Like intelligence, it can be considered a trait that everyone – not just creative "geniuses" like Picasso and Steve Jobs – possesses in ...

Neuroscientists suggest a model for how we gain volitional control of what we hold in our minds

January 16, 2018
Working memory is a sort of "mental sketchpad" that allows you to accomplish everyday tasks such as calling in your hungry family's takeout order and finding the bathroom you were just told "will be the third door on the ...

Miles Davis is not Mozart: The brains of jazz and classical pianists work differently

January 16, 2018
Keith Jarret, world-famous jazz pianist, once answered in an interview when asked if he would ever be interested in doing a concert where he would play both jazz and classical music: "No, that's hilarious. [...] It's like ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.