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Cited by 110Mitochondrial Function and PathologyATP Synthase and ATPases ResearchAutophagy in Disease and Therapy

ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels

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Peralta, Susana, Goffart, Steffi, Williams, Sion L., Diaz, Francisca, Garcia, Sofia, Nissanka, Nadee, Area-Gomez, Estela, Pohjoismäki, Jaakko +1 more·2018·Journal of Cell Science
DOI 10.1242/jcs.217075PMC PMC6051345
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Abstract

Mutations in the mitochondrial inner membrane ATPase ATAD3A result in neurological syndromes in humans. In mice, the ubiquitous disruption of Atad3 (also known as Atad3a) was embryonic lethal, but a skeletal muscle-specific conditional knockout (KO) was viable. At birth, ATAD3 muscle KO mice had normal weight, but from 2 months onwards they showed progressive motor-impaired coordination and weakness. Loss of ATAD3 caused early and severe mitochondrial structural abnormalities, mitochondrial proliferation and muscle atrophy. There was dramatic reduction in mitochondrial cristae junctions and overall cristae morphology. The lack of mitochondrial cristae was accompanied by a reduction in high molecular weight mitochondrial contact site and cristae organizing system (MICOS) complexes, and to a lesser extent in OPA1. Moreover, muscles lacking ATAD3 showed altered cholesterol metabolism, accumulation of mitochondrial DNA (mtDNA) replication intermediates, progressive mtDNA depletion and deletions. Unexpectedly, decreases in the levels of some OXPHOS components occurred after cristae destabilization, indicating that ATAD3 is not crucial for mitochondrial translation, as previously suggested. Our results show a critical early role of ATAD3 in regulating mitochondrial inner membrane structure, leading to secondary defects in mtDNA replication and complex V and cholesterol levels in postmitotic tissue. This article has an associated First Person interview with the first author of the paper.

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Cited by

Sorted by citations

Authors
Peralta, S., Goffart, S., Williams, S. L., Diaz, F., Garcia, S., Nissanka, N., Area-Gomez, E., Pohjoismäki, J., & Moraes, C. T.
Affiliations
  • University of Miami (US)
  • University of Eastern Finland (FI)
  • University of Miami Miller School of Medicine 1 Department of Neurology , , Miami, FL 33136 ,
  • Columbia University Medical Center 4 Department of Neurology , , New York, NY 10032 ,
ORCID
Venue
Journal of Cell Science
Publisher
The Company of Biologists
Published
2018-07-01
Volume
131
Issue
13
ISSN
  • 0021-9533 (ISSN-L)
  • 1477-9137
DOI
10.1242/jcs.217075
PMC
PMC6051345
OpenAlex
W2807984492
Cited by
110
References
8
Citations by year
2026: 14 · 2025: 12 · 2024: 15 · 2023: 18 · 2022: 13 · 2021: 13 · 2020: 10 · 2019: 11 · 2018: 4
FWCI
3.38
Type
journal article
Language
en
Open access
Licence
www.biologists.com/user-licence-1-1/ (vor, 184 d)
Locations
  • Journal of Cell Science (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • National Institute of Neurological Disorders and Stroke (1R01NS079965)
  • National Institute on Aging (1R01AG036871)
  • National Eye Institute (5R01EY010804)
  • National Institutes of Health (P30-EY014801)
  • American Heart Association (16PRE30480009)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › ATP Synthase and ATPases Research
  • Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Keywords
inner mitochondrial membrane, mitochondrial cristae, skeletal muscle, mitochondrial DNA replication, mtDNA depletion, MICOS complex, OPA1, cholesterol metabolism, mitochondrial contact sites, muscle atrophy, motor coordination, oxidative phosphorylation, conditional knockout mice
MeSH terms
ATPases Associated with Diverse Cellular Activities, Animals, Cholesterol, DNA Replication, DNA, Mitochondrial, Female, Humans, Male, Mitochondria, Muscles, Muscular Diseases, Mice, Knockout, Mitochondrial Proteins, Muscle Development, Mice

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