Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-02-25

AUTHORS

Majida Charif, Yvette C. Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaid, Vincent Procaccio, Dominique Bonneau, Patrizia Amati-Bonneau, Pascal Reynier, Dimitri Krainc, Guy Lenaers

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. More... »

PAGES

12

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13024-021-00431-w

DOI

http://dx.doi.org/10.1186/s13024-021-00431-w

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https://app.dimensions.ai/details/publication/pub.1135739711

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/33632269


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45 fission
46 form
47 ganglion cells
48 genes
49 heterozygous variants
50 homeostasis
51 human diseases
52 important role
53 initial loss
54 irreversible loss
55 localization
56 loss
57 membrane
58 membrane proteins
59 microscopy
60 mitochondrial disease
61 mitochondrial dynamics
62 mitochondrial fission
63 mitochondrial membrane
64 mitochondrial membrane protein
65 mitochondrial network dynamics
66 mutations
67 nerve degeneration
68 network dynamics
69 neurodegeneration
70 neuropathy
71 oligomerization
72 optic nerve degeneration
73 optic neuropathy
74 outer mitochondrial membrane
75 outer mitochondrial membrane protein
76 peripheral visual field
77 progressive optic neuropathy
78 protein
79 retinal ganglion cells
80 role
81 sequencing
82 sequencing of genes
83 study
84 unusual form
85 variants
86 visual field
87 visual loss
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