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August 5, 2026International Journal of Molecular SciencesOpen Access

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization

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Authors

MAMazhor AldosaryHAHanan AlQudairyNANourah Alshalan

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Overview

Randomized trial identifies a harmful SLC25A4 mutation leading to myopathy and cardiomyopathy in a child, suggesting future genetic interventions.

Key Points

  • The study aimed to identify and characterize a disease-causing mutation in the SLC25A4 gene in a child with myopathy and cardiomyopathy.
  • Whole exome sequencing and Sanger sequencing conducted to identify mutations.
  • RT-PCR and quantitative PCR performed to assess transcript levels and mitochondrial DNA copy number.
  • Seahorse assays evaluated oxygen consumption and acidification rates in patient-derived fibroblast cell lines.
  • Identified an SLC25A4 variant (c.112-1G>C) causing aberrant splicing leading to a protein deletion (p.Gln37_Val38del).
  • Reduced SLC25A4 transcript levels observed in patient-derived fibroblast and lymphoblast cell lines.
  • Marked reductions in oxygen consumption rate and extracellular acidification rate in patient fibroblast cell lines compared to controls.

Cite This Study

Aldosary et al. (2026) studied this question.

synapsesocial.com/papers/6a72e86e226790f37065842dhttps://doi.org/10.3390/ijms27156978
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