Abstract
The early secretory pathway, provisionally comprising of vesicular traffic between the endoplasmic reticulum (ER) and the Golgi apparatus, occurs constitutively in mammalian cells. Critical for a constant supply of secretory and plasma membrane (PM) materials, the pathway is presumably essential for general cellular function and survival. Neurons exhibit a high intensity in membrane dynamics and protein/lipid trafficking, with differential and polarized trafficking towards the somatodendritic and axonal PM domains. Mutations in genes encoding early secretory pathway membrane trafficking machinery components are known to result in neurodevelopmental or neurological disorders with disease manifestation in early life. Here, such rare disorders associated with autosomal recessive mutations in coat proteins, membrane tethering complexes and membrane fusion machineries responsible for trafficking in the early secretory pathway are summarily discussed. These mutations affected genes encoding subunits of coat protein complex I and II, subunits of transport protein particle (TRAPP) complexes, members of the YIP1 domain family (YIPF) and a SNAP receptor (SNARE) family member. Why the ubiquitously present and constitutively acting early secretory pathway machinery components could specifically affect neurodevelopment is addressed, with the plausible underlying disease etiologies and neuropathological mechanisms resulting from these mutations explored.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Research funding: None declared.
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Conflict of interest statement: The authors declare no conflicts of interest regarding this article.
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Articles in the same Issue
- Frontmatter
- Endocannabinoid system in the neurodevelopment of GABAergic interneurons: implications for neurological and psychiatric disorders
- Roles of glia-derived extracellular vesicles in central nervous system diseases: an update
- Defects in early secretory pathway transport machinery components and neurodevelopmental disorders
- Converging evidence in support of omega-3 polyunsaturated fatty acids as a potential therapy for Huntington’s disease symptoms
- Virtual Morris water maze: opportunities and challenges
Articles in the same Issue
- Frontmatter
- Endocannabinoid system in the neurodevelopment of GABAergic interneurons: implications for neurological and psychiatric disorders
- Roles of glia-derived extracellular vesicles in central nervous system diseases: an update
- Defects in early secretory pathway transport machinery components and neurodevelopmental disorders
- Converging evidence in support of omega-3 polyunsaturated fatty acids as a potential therapy for Huntington’s disease symptoms
- Virtual Morris water maze: opportunities and challenges