Autism Linked to Group of Dysregulated Synapse and Neurotransmitter Release Genes

May 27, 2020 | Biotechnology

Reading time: 5 minutes

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Researchers in Brazil have identified a group of co-expressed genes that are dysregulated in induced pluripotent stem cell (iPSC)-derived neuronal cells from patients with autism spectrum disorder (ASD), and which could potentially be used as a biomarker or even therapeutic target for the neurodevelopmental disorder. The study results, reported by scientists at the University of São Paulo’s Institute of Biosciences (IB-USP), indicate that a common gene expression profile my underpin ASD, regardless of the DNA mutations in any autistic individual.

“We found a group of genes that’s dysregulated in neural progenitor cells, which give rise to neurons, and in neurons themselves,” said Maria Rita dos Santos e Passos-Bueno, PhD, a professor at IB-USP. “The study bore out the hypothesis that, while the origin of autism is multifactorial and different in each person, these different alterations can lead to the same problems in the functioning of their neurons,” added first author Karina Griesi Oliveira, PhD, a researcher in the Albert Einstein Israeli Education and Research Institute (IIEP).

The results indicate that while the DNA of individuals with autism may harbor different alterations, the activity of these genes is similar in people with the disorder, and differs from that of the same genes in the brains of people without autism. The investigators reported on their study in Molecular Psychiatry, in a paper titled, “Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.”

ASD is a neurodevelopmental disorder that affects at least 1% of the population, and is characterized by impaired social-communicative skills and by repetitive behaviors, the authors wrote. Diagnosis of suspected cases generally can’t be made through imaging or blood tests, and while it has long been recognized that genetic factors play an important role in ASD, considerable variability i... More of this in the Genetic Engineering and Biotechnology News (GEN) Blog.

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