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Updated: Jul 7, 2026
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Visualization of MG53-mediated Cell Membrane Repair Using in vivo and in vitro Systems
Published on: June 30, 2011
Membrane traffic and muscle: lessons from human disease
James J Dowling1, Elizabeth M Gibbs, Eva L Feldman
1Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA. jamedowl@med.umich.edu
Traffic (Copenhagen, Denmark)
|February 13, 2008
Summary
Skeletal muscle relies on membrane traffic for health. Mutations in membrane trafficking genes cause human myopathies, offering insights into muscle biology and disease.
Area of Science:
- Cellular Biology
- Molecular Biology
- Genetics
Background:
- Skeletal muscle homeostasis and development depend on membrane traffic.
- Mutations in membrane trafficking machinery genes are linked to human skeletal muscle diseases.
- Understanding these genetic links is crucial for muscle biology and disease pathogenesis.
Purpose of the Study:
- To review current knowledge on trafficking genes implicated in human myopathies.
- To connect membrane trafficking dysfunction to skeletal muscle disease mechanisms.
- To highlight the role of membrane traffic in normal muscle function.
Main Methods:
- Literature review of human myopathies and associated gene products.
- Analysis of the role of specific membrane trafficking proteins in disease.
- Synthesis of information on the connection between trafficking genes and muscle pathology.
Main Results:
- Identified key membrane trafficking genes responsible for various human myopathies.
- Demonstrated the critical role of membrane traffic in skeletal muscle development and maintenance.
- Established a link between mutations in trafficking proteins and disease pathogenesis.
Conclusions:
- Membrane trafficking is essential for skeletal muscle health.
- Dysregulation of membrane trafficking pathways due to genetic mutations underlies human myopathies.
- Studying these genetic defects provides insights into both disease and normal muscle biology.
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...
01:44Introduction 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...
01:44The 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...
01:19Membrane 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...
01:29Primary Active Transport
In contrast to passive transport, active transport involves a substance being moved through membranes in a direction against its concentration or electrochemical gradient. There are two types of active transport: primary active transport and secondary active transport. Primary active transport utilizes chemical energy from ATP to drive protein pumps embedded in the cell membrane. With energy from ATP, the pumps transport ions against their electrochemical gradients—a direction they would not...
01:31Membrane Transporters
Transporters are essential membrane transport proteins with functions related to cell nutrition, homeostasis, communication, etc. Approximately 7% of all genes in the human genome code for transporters or transporter-related proteins.
Transporters are mainly composed of alpha-helices, built from bundles of ten or more helices traversing the plasma membrane. The solute-binding sites are located midway, where some of the helices are broken or distorted, making space for the binding site through...
Transporters are mainly composed of alpha-helices, built from bundles of ten or more helices traversing the plasma membrane. The solute-binding sites are located midway, where some of the helices are broken or distorted, making space for the binding site through...