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A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D).
- Source :
-
Journal of molecular histology [J Mol Histol] 2014 Apr; Vol. 45 (2), pp. 121-8. Date of Electronic Publication: 2013 Aug 30. - Publication Year :
- 2014
-
Abstract
- Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Here, we report a novel GARS-associated mouse neuropathy model using an adenoviral vector system that contains a neuronal-specific promoter. In this model, we found that wild-type GARS is distributed to peripheral axons, dorsal root ganglion (DRG) cell bodies, central axon terminals, and motor neuron cell bodies. In contrast, GARS containing a G240R mutation was localized in DRG and motor neuron cell bodies, but not axonal regions, in vivo. Thus, our data suggest that the disease-causing G240R mutation may result in a distribution defect of GARS in peripheral nerves in vivo. Furthermore, a distributional defect may be associated with axonal degradation in GARS-associated neuropathies.
- Subjects :
- Animals
Axons enzymology
Charcot-Marie-Tooth Disease genetics
Charcot-Marie-Tooth Disease pathology
Disease Models, Animal
Ganglia, Spinal enzymology
Ganglia, Spinal pathology
Genetic Vectors
Glycine-tRNA Ligase genetics
Glycine-tRNA Ligase metabolism
Male
Mice
Mice, Inbred C57BL
Mice, Transgenic
Motor Neurons enzymology
Mutation, Missense
Nerve Fibers, Myelinated enzymology
Organ Specificity
Peripheral Nerves enzymology
Peripheral Nerves pathology
Adenoviridae genetics
Charcot-Marie-Tooth Disease enzymology
Subjects
Details
- Language :
- English
- ISSN :
- 1567-2387
- Volume :
- 45
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of molecular histology
- Publication Type :
- Academic Journal
- Accession number :
- 23990368
- Full Text :
- https://doi.org/10.1007/s10735-013-9537-0