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Morphological and Functional Evaluation of Axons and their Synapses during Axon Death in Drosophila melanogaster
Published on: March 16, 2020
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Membrane-shaping disorders: a common pathway in axon degeneration
Christian A Hübner1, Ingo Kurth2
1Institute of Human Genetics, Jena University Hospital, 07743 Jena, Germany.
Brain : a Journal of Neurology
|October 5, 2014
Summary
Mutations in membrane-shaping proteins cause axonopathies, a spectrum of neurodegenerative disorders affecting central and peripheral neurons. These proteins influence cellular architecture, and their dysfunction leads to varied neurological conditions.
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Long neurons are vulnerable to damage, leading to hereditary neurodegenerative axonopathies affecting central and peripheral nervous systems.
- Axonopathies, including hereditary spastic paraplegias and neuropathies, share pathological similarities.
- A subgroup of axonopathies involves genes encoding membrane-shaping proteins with a reticulon homology domain.
Purpose of the Study:
- To investigate the role of membrane-shaping proteins in hereditary neurodegenerative disorders.
- To explore the connection between these proteins, cellular organelle architecture, and disease manifestation.
- To understand how mutations in these proteins contribute to a spectrum of axonopathies.
Main Methods:
- Analysis of genes encoding membrane-shaping proteins with a reticulon homology domain.
- Investigating the association of these proteins with lipid bilayers and their effect on membrane curvature.
- Examining the structural features and subcellular localization of these proteins.
Main Results:
- Membrane-shaping proteins induce positive membrane curvature and influence organelle architecture.
- These proteins interact and cooperate, but possess distinct roles based on localization.
- Mutations in these proteins can cause either upper motor neuron dysfunction or peripheral neuron degeneration.
Conclusions:
- Dysfunction of membrane-shaping proteins is implicated in a range of axonopathies.
- These disorders may represent a continuous disease spectrum related to axonal health.
- Further research into these proteins could reveal new therapeutic targets for neurodegeneration.
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