ArticleMolecular neurodegeneration2021
Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy.
Article in Molecular neurodegeneration, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 13 citations in OpenAlex.
- Mesenchymal Stromal Cells and Extracellular Vesicles: A Novel Therapeutic Paradigm for Mitochondrial Dysfunctions.International journal of molecular sciences · 2026Review
- Super-resolution microscopy: Insights into mitochondria-lysosome crosstalk in health and disease.The Journal of cell biology · 2023Article
- PI4P-Containing Vesicles from Golgi Contribute to Mitochondrial Division by Coordinating with Polymerized Actin.International journal of molecular sciences · 2023Article
- Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.The Journal of cell biology · 2022Article
- Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.Frontiers in neurology · 2022Article
- High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.EMBO molecular medicine · 2021Article
- When the Balance Tips: Dysregulation of Mitochondrial Dynamics as a Culprit in Disease.International journal of molecular sciences · 2021Review
- Review
- Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.Biomolecules · 2021Review
- Players in Mitochondrial Dynamics and Female Reproduction.Frontiers in molecular biosciences · 2021Review
- The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance.Frontiers in neuroscience · 2021Review
- The Multifaceted Regulation of Mitochondrial Dynamics During Mitosis.Frontiers in cell and developmental biology · 2021Review
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
Abstract
Inherited optic neuropathies are the most common mitochondrial diseases, leading to neurodegeneration involving the irreversible loss of retinal ganglion cells, optic nerve degeneration and central visual loss. Importantly, properly regulated mitochondrial dynamics are critical for maintaining cellular homeostasis, and are further regulated by MIEF1 (mitochondrial elongation factor 1) which encodes for MID51 (mitochondrial dynamics protein 51), an outer mitochondrial membrane protein that acts as an adaptor protein to regulate mitochondrial fission. However, dominant mutations in MIEF1 have not been previously linked to any human disease. Using targeted sequencing of genes involved in mitochondrial dynamics, we report the first heterozygous variants in MIEF1 linked to disease, which cause an unusual form of late-onset progressive optic neuropathy characterized by the initial loss of peripheral visual fields. Pathogenic MIEF1 variants linked to optic neuropathy do not disrupt MID51's localization to the outer mitochondrial membrane or its oligomerization, but rather, significantly disrupt mitochondrial network dynamics compared to wild-type MID51 in high spatial and temporal resolution confocal microscopy live imaging studies. Together, our study identifies dominant MIEF1 mutations as a cause for optic neuropathy and further highlights the important role of properly regulated mitochondrial dynamics in neurodegeneration.
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