https://scholars.lib.ntu.edu.tw/handle/123456789/506993
標題: | Physiology and pathophysiology of CLC-1: Mechanisms of a chloride channel disease, myotonia | 作者: | CHIH-YUNG TANG Chen T.-Y. |
公開日期: | 2011 | 卷: | 2011 | 起(迄)頁: | 685328 | 來源出版物: | Journal of Biomedicine and Biotechnology | 摘要: | 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. ? 2011 Chih-Yung Tang and Tsung-Yu Chen. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84862954608&doi=10.1155%2f2011%2f685328&partnerID=40&md5=ae68271df7913c44e84528513c51a161 https://scholars.lib.ntu.edu.tw/handle/123456789/506993 |
ISSN: | 1110-7243 | DOI: | 10.1155/2011/685328 | SDG/關鍵字: | adenosine triphosphate; chloride; chloride channel; chloride channel 1; glutamic acid; potassium ion; unclassified drug; voltage gated sodium channel; chloride channel; CLC 1 channel; CLC-1 channel; Becker muscular dystrophy; biophysics; cell membrane; channel gating; chloride channelopathy; chromosome 7; gene mutation; human; membrane transport; molecular biology; molecular pathology; muscle function; mutagenesis; myotonia; nonhuman; protein expression; protein structure; protein synthesis; protein transport; review; skeletal muscle; Thomsen disease; animal; chemical structure; female; genetics; male; mutation; pathophysiology; physiology; Thomsen disease; Animals; Chloride Channels; Female; Humans; Male; Models, Molecular; Mutation; Myotonia Congenita |
顯示於: | 生理學科所 |
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