N Granger
Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model
Granger, N; Feliu-Pascual, A; Spicer, C; Ricketts, S; Hitti, R; Forman, O; Hersheson, J; Houlden, H
Authors
A Feliu-Pascual
C Spicer
S Ricketts
R Hitti
O Forman
J Hersheson
H Houlden
Abstract
This study reports the first genetic variant in Miniature Schnauzer dogs responsible for the occurrence of a demyelinating peripheral neuropathy with abnormally folded myelin. This discovery establishes a genotype/phenotype correlation in affected Miniature Schnauzers that can be used for the diagnosis of these dogs. It further supports the dog as a natural model of a human disease; in this instance, Charcot-Marie-Tooth disease. It opens avenues to search the biological mechanisms responsible for the disease and to test new therapies in a non-rodent large animal model. In particular, recent gene editing methods that led to the restoration of dystrophin expression in a canine model of muscular dystrophy could be applied to other canine models such as this before translation to humans.
Citation
Granger, N., Feliu-Pascual, A., Spicer, C., Ricketts, S., Hitti, R., Forman, O., …Houlden, H. (2019). Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ, 7, e7983. https://doi.org/10.7717/peerj.7983
Journal Article Type | Article |
---|---|
Acceptance Date | Oct 2, 2019 |
Publication Date | Nov 21, 2019 |
Deposit Date | Nov 28, 2019 |
Publicly Available Date | Nov 28, 2019 |
Journal | PeerJ |
Electronic ISSN | 2167-8359 |
Publisher | PeerJ |
Peer Reviewed | Peer Reviewed |
Volume | 7 |
Pages | e7983 |
DOI | https://doi.org/10.7717/peerj.7983 |
Public URL | https://rvc-repository.worktribe.com/output/1379685 |
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