Physiology and Pathophysiology of CLC-1 : Mechanisms of a Chloride Channel Disease, Myotonia
Joint Authors
Source
Journal of Biomedicine and Biotechnology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-12-01
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
The CLC-1 chloride channel, a member of the CLC-channel/transporter family, plays important roles for the physiological functions of skeletal muscles.
The opening of this chloride channel is voltage dependent and is also regulated by protons and chloride ions.
Mutations of the gene encoding CLC-1 result in a genetic disease, myotonia congenita, which can be inherited as an autosmal dominant (Thomsen type) or an autosomal recessive (Becker type) pattern.
These mutations are scattered throughout the entire protein sequence, and no clear relationship exists between the inheritance pattern of the mutation and the location of the mutation in the channel protein.
The inheritance pattern of some but not all myotonia mutants can be explained by a working hypothesis that these mutations may exert a “dominant negative” effect on the gating function of the channel.
However, other mutations may be due to different pathophysiological mechanisms, such as the defect of protein trafficking to membranes.
Thus, the underlying mechanisms of myotonia are likely to be quite diverse, and elucidating the pathophysiology of myotonia mutations will require the understanding of multiple molecular/cellular mechanisms of CLC-1 channels in skeletal muscles, including molecular operation, protein synthesis, and membrane trafficking mechanisms.
American Psychological Association (APA)
Tang, Chih-Yung& Chen, Tsung-Yu. 2011. Physiology and Pathophysiology of CLC-1 : Mechanisms of a Chloride Channel Disease, Myotonia. Journal of Biomedicine and Biotechnology،Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-490448
Modern Language Association (MLA)
Tang, Chih-Yung& Chen, Tsung-Yu. Physiology and Pathophysiology of CLC-1 : Mechanisms of a Chloride Channel Disease, Myotonia. Journal of Biomedicine and Biotechnology No. 2011 (2011), pp.1-10.
https://search.emarefa.net/detail/BIM-490448
American Medical Association (AMA)
Tang, Chih-Yung& Chen, Tsung-Yu. Physiology and Pathophysiology of CLC-1 : Mechanisms of a Chloride Channel Disease, Myotonia. Journal of Biomedicine and Biotechnology. 2011. Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-490448
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-490448