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mTOR signalling pathway - A root cause for idiopathic autism?
Harsha Ganesan1, Venkatesh Balasubramanian1, Mahalaxmi Iyer2
1Human Molecular Cytogenetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore 641046, Tamil Nadu, India.
BMB Reports
|June 13, 2019
Summary
The mTOR signaling pathway is implicated in idiopathic autism, affecting protein synthesis and brain homeostasis. Targeting mTOR regulators may offer therapeutic avenues for autism spectrum disorder.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with significant genetic underpinnings.
- Idiopathic autism lacks a specific identified causative agent.
- The mTOR signaling pathway is crucial for cellular processes including protein synthesis and brain homeostasis.
Purpose of the Study:
- To review the role of the mTOR signaling pathway in the onset of idiopathic autism.
- To elucidate the mechanisms by which aberrant mTOR signaling contributes to autism.
- To identify potential therapeutic targets within the mTOR pathway.
Main Methods:
- Review of existing literature on mTOR signaling and autism spectrum disorder.
- Analysis of molecular mechanisms underlying mTOR pathway dysregulation in neuronal cells.
- Identification of downstream effectors of mTOR signaling relevant to idiopathic autism.
Main Results:
- The mTOR signaling pathway plays a pivotal role in the pathogenesis of idiopathic autism.
- Distorted mTOR signaling leads to truncated translation and reduced protein synthesis at dendritic spines.
- Aberrant mTOR signaling contributes to altered brain homeostasis in ASD.
Conclusions:
- The mTOR signaling pathway is a key factor in the development of idiopathic autism.
- Downstream regulators of mTOR, including p70S6K, eIF4B, and eIF4E, are promising therapeutic targets.
- Modulating mTOR signaling may offer a novel treatment strategy for individuals with idiopathic autism spectrum disorder.
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