Mayo Clinic-led study finds specific neurons linked to ASD’s development

UAE – A new study conducted by scientists from Mayo Clinic and Yale University is taking science one step closer to understanding how autism spectrum disorder (ASD) manifests in children.

In the new study published in the peer-reviewed journal Nature Neuroscience, scientists revealed that the specific cells known as excitatory cortical neurons have a major influence on patterns of information transmitted within the brain.

The study was led by Alexej Abyzov, Ph.D., a genomic researcher in the Department of Quantitative Health Sciences at the Mayo Clinic Center for Individualized Medicine.

“For the study, the Mayo Clinic-Yale University scientists first created miniature three-dimensional brain-like models, called organoids. The pea-sized clusters of cells began as skin cells from people with autism spectrum disorder,” said Dr. Alexej Abyzov.

He further said that the scientists used a special technology called single-cell ribonucleic acid (RNA) sequencing to study the gene expression patterns of individual brain cells.

Throughout the course of this study, the Mayo Clinic-Yale University scientists examined 664,272 brain cells at three different stages of brain development.

Autism spectrum disorder is a neurological condition that affects the way people perceive and interact with others, leading to challenges in social communication and behavior.

Using human “mini-brain” models known as organoids, the team found an abnormal imbalance of excitatory neurons in the forebrain of people with ASD, depending on their head size.

The team utilized organoid technology to recreate the brain development alteration that happened in ASD patients when they were in the uterus, which is believed to be the time when autism spectrum disorder originates.

“The skin cells were placed in a culture dish and “reprogrammed” back into a stem-cell-like state, called induced pluripotent stem cells. These so-called master cells can be coaxed to develop into any cell in the body, including brain cells,” explained Dr. Abyzov.

The scientists discovered that the roots of autism spectrum disorder may be associated with an imbalance of excitatory cortical neurons that play a critical role in how the brain communicates and functions.

They also discovered that the neuron imbalance stemmed from changes in the activity of certain genes that play a crucial role in directing the development of cells during the initial stages of brain formation.

Dr. Abyzov noted that determining the risk of autism spectrum disorder would require detailed knowledge of how brain regulation gets derailed during development, noting that there are many aspects in which organoids could help in this direction.

On the importance of continued efforts, Dr. Abyzov stated: “Our goal is to be able to determine the risk of autism spectrum disorder and possibly prevent it in an unborn child using prenatal genetic testing.”

This study builds on 13 years of published studies on autism spectrum disorder by Dr. Alexej Abyzov and his collaborators, including Flora Vaccarino, M.D., a neuroscientist at Yale University.

In one pioneering study, they showed molecular differences in organoids between people with autism and those without and implicated the deregulation of a specific transcription factor called FOXG1 as an underlying cause of the disorder.

The new study provides scientists the opportunity to potentially formulate effective approaches to diagnosing, managing, and treating autism spectrum disorder, which affects about 1 in 100 children worldwide.

For all the latest healthcare industry news from Africa and the World, subscribe to our NEWSLETTER, and YouTube Channel, follow us on Twitter and LinkedIn, and like us on Facebook.