ArticleMolecular biology of the cell2015
Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.
Article in Molecular biology of the cell, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Mitochondrial stress: a key role of neuroinflammation in stroke.Journal of neuroinflammation · 2024Review
- Adenine nucleotide carrier protein dysfunction in human disease.IUBMB life · 2023Review
- Article
- Review
- Mitochondria Isolated from Hearts Subjected to Ischemia/Reperfusion Benefit from Adenine Nucleotide Translocase 1 Overexpression.Membranes · 2021Article
- Learning from Yeast about Mitochondrial Carriers.Microorganisms · 2021Review
- A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with DominantInternational journal of molecular sciences · 2021Article
- The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases.Genes · 2021Review
- The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.Physiology (Bethesda, Md.) · 2020Review
- Consequences of inner mitochondrial membrane protein misfolding.Mitochondrion · 2019Review
- Mitochondrial carrier protein overloading and misfolding induce aggresomes and proteostatic adaptations in the cytosol.Molecular biology of the cell · 2019Article
- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.JIMD reports · 2019Article
- Mitochondria-cytosol-nucleus crosstalk: learning from Saccharomyces cerevisiae.FEMS yeast research · 2018Review
- mPOS is a novel mitochondrial trigger of cell death - implications for neurodegeneration.FEBS letters · 2018Review
- Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.Journal of applied genetics · 2018Review
- Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.American journal of human genetics · 2016Article
- A cytosolic network suppressing mitochondria-mediated proteostatic stress and cell death.Nature · 2015Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Approximately one-third of proteins in the cell reside in the membrane. Mutations in membrane proteins can induce conformational changes and expose nonnative polar domains/residues to the lipid environment. The molecular effect of the resulting membrane stress is poorly defined. Adenine nucleotide translocase 1 (Ant1) is a mitochondrial inner membrane protein involved in ATP/ADP exchange. Missense mutations in the Ant1 isoform cause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyopathy, and myopathy. The mechanism of the Ant1-induced pathologies is highly debated. Here we show that equivalent mutations in the yeast Aac2 protein cause protein misfolding. Misfolded Aac2 drastically affects the assembly and stability of multiple protein complexes in the membrane, which ultimately inhibits cell growth. Despite causing similar proteostatic damages, the adPEO- but not the cardiomyopathy/myopathy-type Aac2 proteins form large aggregates. The data suggest that the Ant1-induced diseases belong to protein misfolding disorders. Protein homeostasis is subtly maintained on the mitochondrial inner membrane and can be derailed by the misfolding of one single protein with or without aggregate formation. This finding could have broad implications for understanding other dominant diseases (e.g., retinitis pigmentosa) caused by missense mutations in membrane proteins.
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