PUBLICATION
Myotonia Congenita-Associated Mutations in Chloride Channel-1 Affect Zebrafish Body Wave Swimming Kinematics
- Authors
- Cheng, W., Tian, J., Burgunder, J.M., Hunziker, W., Eng, H.L.
- ID
- ZDB-PUB-140802-1
- Date
- 2014
- Source
- PLoS One 9: e103445 (Journal)
- Registered Authors
- Keywords
- Zebrafish, Fishes, Embryos, Tails, Swimming, Cameras, Musculoskeletal system, Fluorescence microscopy
- MeSH Terms
-
- Actins/genetics
- Animals
- Animals, Genetically Modified
- Biomechanical Phenomena
- Chloride Channels/genetics*
- Disease Models, Animal
- Gene Expression
- Gene Order
- Genetic Vectors/genetics
- Humans
- Locomotion/genetics
- Muscles/metabolism
- Mutation*
- Myotonia Congenita/diagnosis
- Myotonia Congenita/genetics*
- Phenotype
- Recombinant Fusion Proteins/genetics
- Recombinant Fusion Proteins/metabolism
- Swimming*
- Zebrafish/genetics*
- PubMed
- 25083883 Full text @ PLoS One
Citation
Cheng, W., Tian, J., Burgunder, J.M., Hunziker, W., Eng, H.L. (2014) Myotonia Congenita-Associated Mutations in Chloride Channel-1 Affect Zebrafish Body Wave Swimming Kinematics. PLoS One. 9:e103445.
Abstract
Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders. In this study, we generated transgenic zebrafish expressing, under the control of a muscle specific promoter, human CLCN1 carrying mutations that have been identified in human patients suffering from myotonia congenita. We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming. Two new parameters for body-wave kinematics of swimming reveal changes in body curvature and tail offset in transgenic zebrafish expressing the disease-associated CLCN1 mutants, presumably due to their effect on muscle function. The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other movement disorders besides myotonia congenita.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping