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Published on: July 9, 2016
Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
Liliana Rojas-Charry1,2,3, Leonardo Nardi1, Axel Methner4,5
1Institute for Microscopic Anatomy and Neurobiology, University Medical Center of the Johannes Gutenberg-University, Duesbergweg 6, 55128, Mainz, Germany.
Insights
Mitochondria play crucial roles at synapses in autism spectrum disorder (ASD). This review summarizes mitochondrial disturbances in ASD and related neurodevelopmental disorders, highlighting their importance in pathophysiology.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Autism spectrum disorder (ASD) is a neurodevelopmental condition with complex genetic underpinnings.
- ASD diagnosis is challenging due to varied clinical presentations.
- Synaptic gene mutations and mitochondrial dysfunction are implicated in ASD pathophysiology.
Purpose of the Study:
- To review the current understanding of mitochondrial functions at the synapse.
- To summarize mitochondrial disturbances observed in mouse models of ASD.
- To explore mitochondrial roles in related neurodevelopmental disorders.
Main Methods:
- Literature review of current research on mitochondria in ASD.
- Analysis of findings from mouse models of ASD and related disorders.
- Synthesis of information on synaptic mitochondrial functions.
Main Results:
- Mitochondria have diverse, non-energy-related functions at synapses.
- Specific mitochondrial disturbances are identified in various ASD mouse models.
- Similarities in mitochondrial alterations are noted across different neurodevelopmental disorders.
Conclusions:
- Mitochondrial dysfunction is a significant factor in ASD pathophysiology.
- Understanding synaptic mitochondria is key to unraveling ASD.
- Further research into mitochondrial roles may inform therapeutic strategies for ASD and related conditions.
Abstract:
Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.
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