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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping
The Journal of Clinical Investigation
|September 21, 2013
Summary
Receptor accessory protein 1 (REEP1) mutations cause hereditary spastic paraplegia (HSP). This study reveals REEP1
Area of Science:
- Neuroscience
- Genetics
- Cell Biology
Background:
- Hereditary spastic paraplegia (HSP) is a group of disorders causing progressive axonal degeneration.
- Mutations in spastic paraplegia genes (SPGs) are linked to HSP.
- SPG31 is an autosomal dominant HSP variant linked to REEP1.
Purpose of the Study:
- To investigate the role of REEP1 in SPG31.
- To elucidate the cellular pathology of REEP1 deficiency in neurons.
Main Methods:
- Identified a REEP1 exon 2 deletion in an SPG31 patient.
- Generated a Reep1 exon 2 deletion mouse model.
- Performed ultrastructural analysis of neurons in Reep1-deficient mice.
Main Results:
- Heterozygous Reep1 deletion in mice caused a gait disorder similar to human SPG31.
- Homozygous Reep1 deletion led to a more severe phenotype and earlier onset.
- REEP1 is a neuron-specific protein that influences ER architecture and membrane curvature.
Conclusions:
- REEP1 deficiency impairs neuronal ER structure, leading to axonal degeneration.
- Proper neuronal ER architecture is crucial for long-term axon survival.
