Journal
FRONTIERS IN NEUROSCIENCE
Volume 13, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fnins.2019.01051
Keywords
endoplasmic reticulum; axon; mitochondria; lipid droplet; endolysosome; plasma membrane; microtubule
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Funding
- SFI-HRB-Wellcome Trust Biomedical Research Partnership
- Irish Research Council (IRC)
- Seed Award in Science [202020/Z/16/Z]
- IRC-Government of Ireland Ph.D. studentship [GOIPG/2018/3011]
- SFI under the European Regional Development Fund [13/RC/2073]
- Wellcome Trust [202020/Z/16/Z] Funding Source: Wellcome Trust
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The hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative conditions whose characteristic feature is degeneration of the longest axons within the corticospinal tract which leads to progressive spasticity and weakness of the lower limbs. Though highly genetically heterogeneous, the majority of HSP cases are caused by mutations in genes encoding proteins that are responsible for generating and organizing the tubular endoplasmic reticulum (ER). Despite this, the role of the ER within neurons, particularly the long axons affected in HSP, is not well understood. Throughout axons, ER tubules make extensive contacts with other organelles, the cytoskeleton and the plasma membrane. At these ER contacts, protein complexes work in concert to perform specialized functions including organelle shaping, calcium homeostasis and lipid biogenesis, all of which are vital for neuronal survival and may be disrupted by HSP-ausing mutations. In this article we summarize the proteins which mediate ER contacts, review the functions these contacts are known to carry out within neurons, and discuss the potential contribution of disruption of ER contacts to axonopathy in HSP.
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