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August 20, 2025Journal of Cardiovascular Development and DiseaseOpen Access

Dysfunctional Electron Transport Chain Assembly in COXPD8

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Authors

GBGisela BeutnerHHHeidie HuyckGDGail Deutsch

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Overview

Case analysis reports two novel AARS2 mutations in a COXPD8 patient, indicating disrupted electron transport chain assembly and respiratory supercomplex formation.

Key Points

  • Decreased assembly of complexes I and IV in the electron transport chain was observed due to two AARS2 mutations.
  • The c.1738 C>G mutation is novel, while the c.2872 C>T mutation correlates with severe clinical symptoms.
  • Analysis used cardiac tissue from a LungMAP program participant to assess mitochondrial function and protein expression.
  • These findings suggest a significant link between AARS2 mutations and bioenergetic stress in COXPD8 cases.

Cite This Study

Beutner et al. (2025) studied this question.

synapsesocial.com/papers/68af3e42cf1dd9ea359eb178https://doi.org/10.3390/jcdd12080318
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Also Consider

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

  1. 1Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathy2025
  2. 2Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene2025
  3. 3Supercomplex Restructuring in Heart Mitochondria of COX7A1-Deficient Mice2025
  4. 4Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.2025
  5. 5Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in <scp>ATP5PO</scp>2025