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MINI REVIEW article
Front. Neurosci.
Sec. Neurodegeneration
Volume 18 - 2024 |
doi: 10.3389/fnins.2024.1496142
This article is part of the Research Topic Molecular and Cellular pathways leading to Mitochondrial Dysfunction and Neurodegeneration: Lessons from in vivo models - Volume II View all 5 articles
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models
Provisionally accepted- Department of Medical Genetics and Human Genomics. MedicalUniversity Hospital Tuebingen, Tuebingen, Germany
Pathogenic variants in the ATAD3 gene cluster have been associated with different neurodevelopmental disorders showing clinical symptoms like global developmental delay, muscular hypotonia, cardiomyopathy, congenital cataracts, and cerebellar atrophy. ATAD3A encodes for a mitochondrial ATPase whose function is unclear and has been considered one of the five most common nuclear genes associated with mitochondrial diseases in childhood. However, the mechanism causing ATAD3-associated disorders is still unknown. In vivo models have been used to identify ATAD3 function. Here we summarize the features of mouse models with ATAD3 loss of function and Drosophila models overexpressing pathogenic ATAD3 variants. We discuss how these models have contributed to our understanding of ATAD3 function and the pathomechanism of the ATAD3associated disease.
Keywords: ATAD3, Cholesterol, mtDNA depletion and deletion, neurodegeneration, animal model
Received: 13 Sep 2024; Accepted: 28 Oct 2024.
Copyright: © 2024 Brugel, Kiesel, Haack and Peralta. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Susana Peralta, Department of Medical Genetics and Human Genomics. MedicalUniversity Hospital Tuebingen, Tuebingen, Germany
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