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Published on: May 18, 2010
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Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders
M Gartz Hanson1, Veronica L Fregoso2, Justin D Vrana3
1Howard Hughes Medical Institute, Dept. of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 80045, United States.
Developmental Biology
|September 2, 2014
Summary
Peroxisome biogenesis disorders (PBD) cause developmental abnormalities. This study reveals PEX10 deficiency impairs fetal nervous system development, leading to severe motor deficits and early death in mice.
Area of Science:
- Genetics
- Developmental Biology
- Neuroscience
Background:
- Peroxisome biogenesis disorders (PBDs) are inherited conditions causing skeletal, eye, and brain abnormalities.
- Neurological deficits, including peripheral nervous system (PNS) defects, are observed in some PBD patients, but their embryonic origins are not fully understood.
Purpose of the Study:
- To investigate the embryological basis of PNS defects in PBDs.
- To characterize a novel mouse model for Pex10 deficiency.
Main Methods:
- Forward genetic screen in mice to identify models of PBD.
- Biochemical, neuropathological, molecular, and electrophysiological analyses of Pex10-deficient embryos.
Main Results:
- Homozygous Pex10 mutant mouse embryos exhibit PBD-related biochemical abnormalities.
- Mutant fetuses show progressive loss of movement, cyanosis, and death shortly after birth.
- Neuropathological findings include decreased axonal and synaptic integrity, aberrant axon extension, and reduced Schwann cell numbers.
Conclusions:
- PEX10 is crucial for normal fetal nervous system development, particularly the spinal locomotor circuit.
- This mouse model provides insights into the embryological basis of PNS deficits in PBDs.
- PEX10 and other PEX proteins are essential for establishing functional peripheral nervous system circuits.
