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Visualizing Intracellular SNARE Trafficking by Fluorescence Lifetime Imaging Microscopy
Published on: December 29, 2017
When intracellular logistics fails--genetic defects in membrane trafficking
Vesa M Olkkonen1, Elina Ikonen
1Department of Molecular Medicine, National Public Health Institute (KTL), Biomedicum, POBox 104, FI-00251 Helsinki, Finland. vesa.olkkonen@ktl.fi
Journal of Cell Science
|December 13, 2006
Summary
Genetic defects in membrane trafficking cause human disorders, particularly neurological diseases. Studying these gene defects reveals new insights into cellular transport and potential therapies.
Area of Science:
- Cell Biology
- Genetics
- Neuroscience
Background:
- Human genetic disorders linked to membrane trafficking defects are increasingly identified.
- These defects affect cargo sorting, vesicle transport, and fusion, impacting cellular function.
Purpose of the Study:
- To summarize recent advances in understanding gene defects in membrane trafficking disorders.
- To highlight the neurological impact of these disorders and the discovery of new trafficking components.
Main Methods:
- Review of recent scientific literature on genetic disorders and membrane trafficking.
- Analysis of gene defects and their resulting phenotypic consequences.
- Identification of functionally linked trafficking components and regulatory mechanisms.
Main Results:
- A growing number of human genetic disorders are attributed to membrane trafficking defects.
- Neurological defects are common, especially those affecting vesicle transport along cytoskeletal tracks.
- Studies have uncovered functionally linked trafficking components and regulatory mechanisms, revealing redundancy in the transport apparatus.
Conclusions:
- Gene defects in membrane trafficking disorders offer insights into fundamental intracellular transport mechanisms.
- Understanding these disorders can lead to new therapeutic strategies for neurological diseases.
Related Concept Videos
01:44Introduction to Membrane Traffic
The ER, Golgi apparatus, endosomes, and lysosomes work in tandem to modify, sort, and package proteins and lipids. An integrated membrane trafficking network facilitates the back and forth shuttling of molecules within different organelles in the same cell or across the cell membrane.
The transport of soluble and membrane proteins is mediated by transport vesicles that collect cargo from one cellular compartment and deliver it to another by fusing with the target organelle membrane. The Rab...
The transport of soluble and membrane proteins is mediated by transport vesicles that collect cargo from one cellular compartment and deliver it to another by fusing with the target organelle membrane. The Rab...
01:19Membrane Asymmetry Regulating Transporters
Enzymes like flippase, floppase, and scramblase transfer phospholipids from one layer to another in the membrane, thereby affecting membrane asymmetry.
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
01:32Export of Misfolded Proteins out of the ER
After folding, the ER assesses the quality of secretory and membrane proteins. The correctly folded proteins are cleared by the calnexin cycle for transport to their final destination, while misfolded proteins are held back in the ER lumen. The ER chaperones attempt to unfold and refold the misfolded proteins but sometimes fail to achieve the correct native conformation. Such terminally misfolded proteins are then exported to the cytosol by ER-associated degradation or ERAD pathway for...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:44The Significance of Membrane Transport
The transport of solutes across the cell membrane is essential for metabolic processes, like maintaining cell size and volume, generating the action potential, exchanging nutrients and gases, etc. Membrane transport can be either passive or active. It can be simple diffusion, facilitated, or mediated transport aided by transport proteins such as transporters and channels.
Transporters facilitate either an active or passive movement of solutes. They can allow a single-molecule transport down its...
Transporters facilitate either an active or passive movement of solutes. They can allow a single-molecule transport down its...
01:45ER Retrieval Pathway
In the secretory pathway, vesicles transport proteins from one cellular compartment to another in forward transport to deliver the protein to its correct location. Occasionally, misfolded proteins and incorrect proteins escape their original compartments, and a retrieval pathway is used to return the escaped proteins to their original compartment.
The ER uses many checkpoints to prevent the entry of incorrectly folded or a resident protein as cargo onto a transport vesicle. These mechanisms...
The ER uses many checkpoints to prevent the entry of incorrectly folded or a resident protein as cargo onto a transport vesicle. These mechanisms...