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Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders

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 d...

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Autores principales: Rojas-Charry, Liliana, Nardi, Leonardo, Methner, Axel, Schmeisser, Michael J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819932/
https://www.ncbi.nlm.nih.gov/pubmed/33340060
http://dx.doi.org/10.1007/s00109-020-02018-2
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author Rojas-Charry, Liliana
Nardi, Leonardo
Methner, Axel
Schmeisser, Michael J.
author_facet Rojas-Charry, Liliana
Nardi, Leonardo
Methner, Axel
Schmeisser, Michael J.
author_sort Rojas-Charry, Liliana
collection PubMed
description 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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spelling pubmed-78199322021-01-28 Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders Rojas-Charry, Liliana Nardi, Leonardo Methner, Axel Schmeisser, Michael J. J Mol Med (Berl) Review 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. Springer Berlin Heidelberg 2020-12-18 2021 /pmc/articles/PMC7819932/ /pubmed/33340060 http://dx.doi.org/10.1007/s00109-020-02018-2 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Review
Rojas-Charry, Liliana
Nardi, Leonardo
Methner, Axel
Schmeisser, Michael J.
Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title_full Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title_fullStr Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title_full_unstemmed Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title_short Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
title_sort abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7819932/
https://www.ncbi.nlm.nih.gov/pubmed/33340060
http://dx.doi.org/10.1007/s00109-020-02018-2
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