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October 8, 2025Journal of Translational MedicineOpen Access

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish

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Authors

CXChunyan XianQLQing LuoWLWeiping Li

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Overview

Analysis reveals atp5f1a mutations cause motor dysfunction and developmental delay, indicating important insights for therapy.

Key Points

  • Atp5f1a deficiency led to significant motor dysfunction and developmental delay in both humans and zebrafish models.
  • A de novo missense mutation was identified that reduced protein stability and expression, correlating with disease symptoms.
  • Morpholino oligonucleotides were used to induce gene knockdown, causing impaired motor neuron morphology in zebrafish.
  • Transcriptomic analysis revealed over 2,200 differentially expressed genes linked to neurotransmission and autophagy pathways.

Cite This Study

Xian et al. (2025) studied this question.

synapsesocial.com/papers/68e6679587ecc93a24d17469https://doi.org/10.1186/s12967-025-07032-x
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Also Consider

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

  1. 1Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders2025
  2. 2Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in <scp>ATP5PO</scp>2025
  3. 3A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities2025
  4. 4Usmani–Riazuddin Syndrome: Functional Characterization of a Novel c.196G&gt;A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model2025
  5. 5Comparison of the Differing Impacts of Lowered N-Acetylglucosaminyltransferase-Ia/b Activity on Motor and Sensory Function in Zebrafish2025