Related Experiment Video
Updated: May 7, 2026
08:53
Using Scaffold Liposomes to Reconstitute Lipid-proximal Protein-protein Interactions In Vitro
Published on: January 11, 2017
Dynamin-2 function and dysfunction along the secretory pathway.
Arlek M González-Jamett1, Fanny Momboisse, Valentina Haro-Acuña
1Facultad de Ciencias, Centro Interdisciplinario de Neurociencia de Valparaíso, Universidad de Valparaíso , Valparaíso , Chile.
Frontiers in Endocrinology
|September 26, 2013
Summary
Dynamin-2 mutations cause neuromuscular disorders like Charcot-Marie-Tooth and centronuclear myopathy. This review examines how these mutations affect dynamin-2
Area of Science:
- Molecular Biology
- Cell Biology
- Neuroscience
Background:
- Dynamin-2 is a GTPase crucial for vesicle transport and cytoskeleton regulation.
- Over 20 mutations in the dynamin-2 gene are linked to Charcot-Marie-Tooth neuropathy and centronuclear myopathy.
- Mutations often cluster in the pleckstrin homology domain, impacting dynamin-2 function differently.
Purpose of the Study:
- To review the impact of disease-related dynamin-2 mutations on its function.
- To explore dynamin-2's role in vesicle trafficking and endocytosis.
- To understand tissue-specific effects of dynamin-2 mutations.
Main Methods:
- Literature review of studies on dynamin-2 mutations and associated disorders.
- Analysis of the functional consequences of mutations on dynamin-2.
- Examination of dynamin-2's role in endocytosis and vesicle trafficking.
Main Results:
- Dynamin-2 mutations are associated with distinct neuromuscular disorders.
- Mutations differentially affect dynamin-2's role in vesicle trafficking and endocytosis.
- No common mutations link Charcot-Marie-Tooth and centronuclear myopathy, suggesting tissue-specific impacts.
Conclusions:
- Dynamin-2 mutations lead to hereditary neuromuscular diseases.
- Understanding mutation-specific effects is key to deciphering disease mechanisms.
- Further research is needed to fully elucidate dynamin-2's role in health and disease.
Related Concept Videos
01:33Overview of Secretory Vesicles
Secretory vesicles, also known as dense core vesicles (DCVs), are membrane-bound vesicles that transport secretory proteins, such as hormones or neurotransmitters. Regulated secretory vesicles transport proteins from the trans-Golgi network to the exterior of the cell. Proteins present in regulated secretory vesicles are required to be rapidly exocytosed in large amounts upon a specific stimulus.
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...
Various proteins regulate the aggregation of molecules inside the secretory vesicles. Chromogranins...
01:32Pinching-off of Coated Vesicles
Vesicle budding is orchestrated by distinct cytosolic proteins such as adaptor proteins, coat proteins, and GTPases. To initiate vesicle budding, membrane-bending proteins containing crescent-shaped BAR domains bind to the lipid heads in the bilayer and distort the membrane to form a protein-coated vesicle bud. Adaptors proteins such as AP2 for clathrin-coated vesicles can nucleate on the deformed membrane. Finally, coat proteins such as clathrin or COPI and COPII assemble into a coat forming...
01:17Role of ER in the Secretory Pathway
Eukaryotic cells have a special pathway that enables communication between various intracellular membrane-bound compartments and also with the extracellular environment. This pathway is termed as the secretory pathway.
Components of the secretory pathway
About a third of proteins synthesized in the cell are sorted via the secretory route. They shuffle between different compartments in membrane-bound vesicles until they reach their final destination. The main intracellular compartments involved...
Components of the secretory pathway
About a third of proteins synthesized in the cell are sorted via the secretory route. They shuffle between different compartments in membrane-bound vesicles until they reach their final destination. The main intracellular compartments involved...
01:32Microtubule Associated Motor Proteins
Eukaryotic cells have different motor proteins for transporting various cargo within the cell. These motor proteins differ based on the filament they associate with, the direction they move within the cell, and the type of cargo they transport. Motor proteins that associate with microtubules are known as microtubule-associated motor proteins. There are two families of microtubule-associated motor proteins —Kinesins and Dyneins. Both these proteins assist in the transport of cellular cargos...
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...
01:43The Movement of Organelles and Vesicles
In eukaryotic cells, cytoskeletal filaments such as actin, microtubules, and intermediate filaments form a mesh-like cytoskeletal network. These filaments serve as tracks for transporting cellular cargo. Specialized motor proteins use the chemical energy stored in adenosine triphosphate (ATP) for this transport. During interphase, microtubules are polarized, with the plus-end towards the cell periphery and the minus-end towards the cell center. Two microtubule-associated motor proteins,...