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Modeling CSF-1 receptor deficiency diseases - how close are we?
Violeta Chitu1, Şölen Gökhan2, E Richard Stanley1
1Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, NY, USA.
The FEBS Journal
|June 19, 2021
Summary
Mutations in colony-stimulating factor-1 receptor (CSF-1R) cause rare pediatric and adult-onset neurological and skeletal diseases. This review examines disease genetics, features, and the utility of mouse models for studying CSF-1R deficiency mechanisms.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Colony-stimulating factor-1 receptor (CSF-1R) is crucial for macrophage and organismal development, extensively studied in mouse models.
- Mutations in CSF1R are linked to rare human diseases: Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (pediatric onset) and CSF1R-related leukoencephalopathy (adult onset).
Purpose of the Study:
- To review the genetics, penetrance, and histopathological characteristics of CSF1R-related disorders.
- To evaluate the suitability of existing mouse models of Csf1r deficiency for investigating disease mechanisms.
Main Methods:
- Literature review of genetic studies, clinical case reports, and histopathological findings related to CSF1R mutations.
- Comparative analysis of human disease phenotypes with phenotypes observed in animal models of Csf1r deficiency.
Main Results:
- CSF1R mutations present with diverse phenotypes, affecting neurological and skeletal systems.
- Existing mouse models exhibit some shared features with human CSF1R-related diseases, but limitations exist in fully recapitulating the human conditions.
Conclusions:
- Understanding the genetics and pathology of CSF1R-related diseases is critical for diagnosis and potential therapeutic strategies.
- While valuable, current mouse models require further refinement to fully elucidate the complex mechanisms underlying CSF1R deficiency disorders in humans.
