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JUMPn: A Streamlined Application for Protein Co-Expression Clustering and Network Analysis in Proteomics
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Integrative network and brain expression analysis reveals mechanistic modules in ataxia
Ilse Eidhof1, Bart P van de Warrenburg2, Annette Schenck1
1Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
Journal of Medical Genetics
|December 29, 2018
Summary
Genetic ataxia research reveals that cerebellar gene networks are crucial for preventing degeneration. Defective cellular stress responses and ion/synaptic functions contribute to ataxia, suggesting targeted therapeutic strategies.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Ataxia encompasses diverse genetic degenerative diseases affecting the cerebellum.
- Numerous genes causing ataxia have been identified, necessitating systematic investigation.
Purpose of the Study:
- To systematically investigate genes associated with ataxia to elucidate pathophysiology.
- To understand the global biological themes underlying cerebellar degeneration in genetic ataxia.
Main Methods:
- A curated list of 71 ataxia-associated genes was analyzed.
- Integrated analysis included gene ontology, protein-protein interaction networks, and brain gene expression profiling.
Main Results:
- Ataxia genes form interconnected networks, showing global coherence regardless of inheritance pattern.
- Elevated cerebellar expression and ion/synaptic functions are linked to ataxia predisposition.
- Defective cellular stress responses represent a common theme for genes without elevated cerebellar expression, highlighting cerebellum's susceptibility.
Conclusions:
- Genetic ataxia primarily impacts neuronal homeostasis, with the cerebellum being particularly vulnerable.
- Identified gene modules suggest therapeutic targets like regulating calcium and reactive oxygen species.
- Understanding these mechanisms may lead to novel interventions for ataxia.
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