2017
DOI: 10.1371/journal.pgen.1006597
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Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

Abstract: Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far, including mutations of genes encoding proteins involved in mitochondrial dynamics. Recently, the “Turning calves syndrome”, a novel sensorimotor polyneuropathy was described in the French Rouge-des-Prés cattle breed. In the present study, we determined that this hereditary disease resulted from a single nucleotide substitution in SLC25A46, a gene encoding a protein of the mitochondri… Show more

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Cited by 21 publications
(42 citation statements)
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“…SLC25A46 has a rather elusive role in mitochondrial dynamics and has been suggested to affect either mitochondrial fission or fusion (Abrams et al, 2015;Duchesne et al, 2017;Janer et al, 2016;Steffen et al, 2017;Terzenidou et al, 2017;Wan et al, 2016). Differences in these observations could reflect the degrees of partial functionality conferred by the SLC25A46 variants and the different cell types investigated.…”
Section: Discussionmentioning
confidence: 99%
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“…SLC25A46 has a rather elusive role in mitochondrial dynamics and has been suggested to affect either mitochondrial fission or fusion (Abrams et al, 2015;Duchesne et al, 2017;Janer et al, 2016;Steffen et al, 2017;Terzenidou et al, 2017;Wan et al, 2016). Differences in these observations could reflect the degrees of partial functionality conferred by the SLC25A46 variants and the different cell types investigated.…”
Section: Discussionmentioning
confidence: 99%
“…A conditional Mfn2 knockout mouse (Chen, McCaffery, & Chan, ) shows early onset cerebellar degeneration and lethality similar to Slc25A46 knockout mice (Li et al., ; Terzenidou et al., ). While an axonal sensory polyneuropathy has been described in cattle caused by mutations in the SLC25A46 orthologue (Duchesne et al., ). The optic nerve, long peripheral axons, and Purkinje cells seem to be the most affected systems in patients and animal models with mutations in SLC25A46 , MFN2 , or OPA1 .…”
Section: Introductionmentioning
confidence: 99%
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