4.7 Review

Mitochondrial dysfunction: A hidden trigger of autism?

Journal

GENES & DISEASES
Volume 8, Issue 5, Pages 629-639

Publisher

ELSEVIER
DOI: 10.1016/j.gendis.2020.07.002

Keywords

Autism; Copy number variation (CNV); Mitochondria encoded genes; Neurodevelopmental disorder; World-wide scenario

Funding

  1. Science and Engineering Research Board (SERB) [ECR/2016/001688]

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Autism is a complex neurodevelopmental and neuropsychiatric disorder with deficits in cognitive functions often linked to environmental and genetic factors. Mitochondria play a crucial role in autism, but research on its dysfunction is currently limited.
Autism is a heterogeneous neurodevelopmental and neuropsychiatric disorder with no precise etiology. Deficits in cognitive functions uncover at early stages and are known to have an environmental and genetic basis. Since autism is multifaceted and also linked with other comorbidities associated with various organs, there is a possibility that there may be a fundamental cellular process responsible for this. These reasons place mitochondria at the point of interest as it is involved in multiple cellular processes predominantly involving metabolism. Mitochondria encoded genes were taken into consideration lately because it is inherited maternally, has its own genome and also functions the time of embryo development. Various researches have linked mitochondrial mishaps like oxidative stress, ROS production and mt-DNA copy number variations to autism. Despite dramatic advances in autism research worldwide, the studies focusing on mitochondrial dysfunction in autism is rather minimal, especially in India. India, owing to its rich diversity, may be able to contribute significantly to autism research. It is vital to urge more studies in this domain as it may help to completely understand the basics of the condition apart from a genetic standpoint. This review focuses on the worldwide and Indian scenario of autism research; mitochondrial abnormalities in autism and possible therapeutic approaches to combat it. Copyright (C) 2020, Chongqing Medical University. Production and hosting by Elsevier B.V.

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