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September 10, 2025EMBO Molecular MedicineOpen Access

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

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Authors

SFSara M. FielderMFMarisa W. FriederichDHDaniella H. Hock

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Overview

Observational analysis found that ATP5F1A variants impair mitochondrial function in individuals with neurological disorders, highlighting a dominant negative mechanism.

Key Points

  • Reduced complex V abundance impairs ATP synthesis, leading to neurological disorders.
  • Six probands showed developmental delay and movement disorders linked to atp5f1a variants.
  • Studies in C. elegans confirmed a dominant negative effect from the atp5f1a variants affecting mitochondrial function.
  • Understanding the atp5f1a variants helps expand the knowledge of associated conditions and their mechanisms.

Cite This Study

Fielder et al. (2025) studied this question.

synapsesocial.com/papers/68c1d23a54b1d3bfb60f80fchttps://doi.org/10.1038/s44321-025-00290-8
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish2025 · 4 citations
  2. 2A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene2026
  3. 3Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in <scp>ATP5PO</scp>2025
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