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A zebrafish model of nondystrophic myotonia with sodium channelopathy

Authors
Nam, Tai-SeungZhang, JunChandrasekaran, GopalakrishnanJeong, In YoungLi, WentingLee, So-HyunKang, Kyung-WookMaeng, Jin-SooKang, HyunoShin, Hee-YoungPark, Hae-ChulKim, SoheeChoi, Seok-YongKim, Myeong-Kyu
Issue Date
1-1월-2020
Publisher
ELSEVIER IRELAND LTD
Keywords
Zebrafish; Paramyotonia congenita; Sodium channel; Myotonia; Hyperkalemic periodic paralysis
Citation
NEUROSCIENCE LETTERS, v.714
Indexed
SCIE
SCOPUS
Journal Title
NEUROSCIENCE LETTERS
Volume
714
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/58373
DOI
10.1016/j.neulet.2019.134579
ISSN
0304-3940
Abstract
Nondystrophic myotonias are disorders of Na+ (Na(v)1.4 or SCN4A) and Cl- (CLCN1) channels in skeletal muscles, and frequently show phenotype heterogeneity. The molecular mechanism underlying their pathophysiology and phenotype heterogeneity remains unclear. As zebrafish models have been recently exploited for studies of the pathophysiology and phenotype heterogeneity of various human genetic diseases, a zebrafish model may be useful for delineating nondystrophic myotonias. Here, we generated transgenic zebrafish expressing a human mutant allele of SCN4A, referred to as Tg(mylpfa:N440K), and needle electromyography revealed increased number of myotonic discharges and positive sharp waves in the muscles of Tg(mylpfa:N440K) than in controls. In addition, forced exercise test at a water temperature of 24 degrees C showed a decrease in the distance moved, time spent in and number of visits to the zone with stronger swimming resistance. Finally, a forced exercise test at a water temperature of 18 degrees C exhibited a higher number of dive-bombing periods and drifting-down behavior than in controls. These findings indicate that Tg(mylpfa:N440K) is a good vertebrate model of exercise- and cold-induced human nondystrophic myotonias. This zebrafish model may contribute to provide insight into the pathophysiology of myotonia in sodium channelopathy and could be used to explore a new therapeutic avenue.
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