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April 1, 2026Journal of Biological ChemistryOpen Access

Molecular analysis of a new patient COX15 mutation provides insight into the etiology of fatal infantile cardioencephalopathy

Jayda A. Carroll-Deaton Iryna Bohovych Faith T. Emetu Jonathan Dietz Elise D. Rivett Elinor Stanley Eric L. Hegg Jennifer L. Fox Oleh Khalimonchuk

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Key Points

To explore the effects of a new COX15 mutation on cytochrome c oxidase function related to infantile cardioencephalopathy.
Characterized the c.232G>A (p.Gly78Arg) mutation in COX15
Utilized modeling in Saccharomyces cerevisiae to study protein stability
Assessed heme a synthesis and cytochrome c oxidase levels
Identified Cox15 protein instability linked to the p.Gly78Arg mutation
Observed decreased levels of cytochrome c oxidase due to insufficient heme a synthesis
Confirmed that the mutation leads to multisystemic mitochondrial disorder

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Implication

Molecular analysis reveals a COX15 mutation affecting cytochrome c oxidase function in infants, suggesting its role in fatal mitochondrial disease.

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Cite This Study

Carroll-Deaton et al. (2026) studied this question.

synapsesocial.com/papers/69e5c2d003c2939914028c29 https://doi.org/10.1016/j.jbc.2026.111475

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Keep reading

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

1A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia2024 · 3 citations
2Biallelic variants in <i>COX18</i> cause a mitochondrial disorder primarily manifesting as peripheral neuropathy2025
3Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study2024 · 4 citations
4COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 ( MC4DN10 )Original Research · 2026
5A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndromeOriginal Research · 2000 · 121 citations

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