Litcius/Paper detail

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

Luigi Citrigno, M. Muglia, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Giovanni Pioggia, Antonio Cerasa

2020International Journal of Molecular Sciences53 citationsDOIOpen Access PDF

Abstract

Autism spectrum disorders (ASDs) constitute a set of heterogeneous neurodevelopmental conditions, characterized by a wide genetic variability that has led to hypothesize a polygenic origin. The metabolic profiles of patients with ASD suggest a possible implication of mitochondrial pathways. Although different physiological and biochemical studies reported deficits in mitochondrial oxidative phosphorylation in subjects with ASD, the role of mitochondrial DNA variations has remained relatively unexplored. In this review, we report and discuss very recent evidence to demonstrate the key role of mitochondrial disorders in the development of ASD.

Topics & Concepts

AutismMitochondrial DNAMitochondrial diseaseAutism spectrum disorderMitochondrionBiologyOxidative phosphorylationGeneticsBioinformaticsNeuroscienceMedicineGenePsychiatryBiochemistryGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchCongenital heart defects research