Mitochondria seen as common thread in autism spectrum disorder

By The Science Advisory Board staff writers

November 28, 2022 -- Researchers in Canada have discovered previously unknown connections between genetic factors in autism spectrum disorder (ASD), specifically with the mitochondria.

ASD varies widely and hundreds of risk genes have been associated with disease development. Is there a common link? That's what scientists from the Donald K. Johnson Eye Institute (DKJEI) in Toronto sought to find out. They used a protein mapping tool to study 41 risk genes associated with ASD, many of which were not previously known to interact with each other (Cell Reports, November 22, 2022).

Several of the risk genes modulate mitochondria activity and because brain cells are metabolically very active, disruptions to their mitochondrial function can impact brain function. The protein-based mapping tool could also be used to help classify individuals with ASD who have a shared biological signature; because ASD is a highly variable disorder, grouping individuals based on biological factors could help researchers develop more tailored treatments.

Next, the team plans to apply the mapping tool to patient-specific brain tissue where stem cells from a patient's blood are developed into 3D brain tissues that exhibit that patient's unique gene and protein profiles.

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