Physiology and pathophysiology of CLC-1

Mechanisms of a chloride channel disease, myotonia

Chih Yung Tang, Tsung-Yu Chen

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number685328
JournalJournal of Biomedicine and Biotechnology
Volume2011
DOIs
StatePublished - 2011

Fingerprint

Myotonia
Chloride Channels
Physiology
Mutation
Muscle
Proteins
Inheritance Patterns
Membranes
Gene encoding
Skeletal Muscle
Protons
Chlorides
Myotonia Congenita
Ions
Inborn Genetic Diseases
Defects
Protein Transport
Electric potential
Membrane Proteins

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Genetics
  • Molecular Biology
  • Health, Toxicology and Mutagenesis
  • Medicine(all)

Cite this

Physiology and pathophysiology of CLC-1 : Mechanisms of a chloride channel disease, myotonia. / Tang, Chih Yung; Chen, Tsung-Yu.

In: Journal of Biomedicine and Biotechnology, Vol. 2011, 685328, 2011.

Research output: Contribution to journalArticle

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