Abnormal mTOR Activity in Pediatric Autoimmune Neuropsychiatric and MIA-Associated Autism Spectrum Disorders

Area of Science:

• Neuroscience
• Genetics
• Immunology

Background:

• Autism spectrum disorder (ASD) is a neurodevelopmental condition with early onset of communication and behavioral issues.
• While highly heritable, environmental factors significantly influence ASD development.
• Dysregulation of mammalian target of rapamycin (mTOR)-dependent translation is implicated in a substantial portion of autism cases.

Purpose of the Study:

• To review evidence connecting mTOR signaling with maternal autoantibody-related (MAR) autism spectrum and autoimmune neuropsychiatric disorders.
• To reconstruct the interaction network between mTOR signaling and eight MAR ASD genes.
• To explore the necessity of developing diagnostic tools for antibody-related autism.

Main Methods:

• Narrative review of bioinformatic and experimental evidence.
• Network reconstruction of gene interactions.
• Analysis of existing research on mTOR signaling and MAR ASD.

Main Results:

• Evidence links mTOR signaling to MAR autism spectrum disorders.
• A network illustrating interactions between mTOR signaling and MAR ASD genes was constructed.
• The study underscores the need for ASD subtyping based on pathogenic mechanisms.

Conclusions:

• mTOR signaling is a key factor in MAR autism spectrum disorders.
• Subtyping ASD by pathogenic mechanisms is crucial for targeted interventions.
• Development of ELISA-based tests for autism-related antibodies is recommended.