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April 3, 2026Circulation Genomic and Precision Medicine0 citations

Newfoundland Mutation TMEM43 -p.S358L Causes Impaired Cardiac Energy Metabolism and Mitochondrial Function Through Altered Protein Interaction

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SRSandra RatnavadivelKJKai JürgensNKNora Klinke

Key Points

  • This research investigates how the TMEM43-p.S358L mutation affects cardiac energy metabolism and mitochondrial function.
  • Examined protein interactions between mutant TMEM43 and mitochondrial proteins
  • Analyzed changes in mitochondrial function and lipid metabolism
  • Mutant TMEM43 shows altered protein interactions with mitochondrial and endoplasmic reticulum proteins
  • Impairments in lipid homeostasis and energy supply in cardiac cells were observed

Abstract

We suggest differential interaction of mutant TMEM43 with proteins of mitochondria and endoplasmic reticulum influences endoplasmic reticulum-mitochondrial contact sites. TMEM43-p.S358L primarily contributes to changes in mitochondrial function affecting lipid homeostasis and energy supply.

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Cite This Study

Ratnavadivel et al. (2026) studied this question.

synapsesocial.com/papers/69cf5cb15a333a821460a3fbhttps://doi.org/10.1161/circgen.125.005171
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