An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes.
Publication/Presentation Date
2-9-2021
Abstract
Autism spectrum disorders (ASDs) are characterized by a deficit in social communication, pathologic repetitive behaviors, restricted interests, and electroencephalogram (EEG) aberrations. While exhaustive analysis of nuclear DNA (nDNA) variation has revealed hundreds of copy number variants (CNVs) and loss-of-function (LOF) mutations, no unifying hypothesis as to the pathophysiology of ASD has yet emerged. Based on biochemical and physiological analyses, it has been hypothesized that ASD may be the result of a systemic mitochondrial deficiency with brain-specific manifestations. This proposal has been supported by recent mitochondrial DNA (mtDNA) analyses identifying both germline and somatic mtDNA variants in ASD. If mitochondrial defects do predispose to ASD, then mice with certain mtDNA mutations should present with autism endophenotypes. To test this prediction, we examined a mouse strain harboring an mtDNA
Volume
118
Issue
6
ISSN
1091-6490
Published In/Presented At
Yardeni, T., Cristancho, A. G., McCoy, A. J., Schaefer, P. M., McManus, M. J., Marsh, E. D., & Wallace, D. C. (2021). An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes. Proceedings of the National Academy of Sciences of the United States of America, 118(6), e2021429118. https://doi.org/10.1073/pnas.2021429118
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
33536343
Department(s)
Department of Pediatrics
Document Type
Article