Ryanodine receptors and their role in genetic diseases (review).

  • Authors:
    • T Leeb
    • B Brenig
  • View Affiliations

  • Published online on: September 1, 1998     https://doi.org/10.3892/ijmm.2.3.293
  • Pages: 293-593
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Abstract

The skeletal muscle ryanodine receptor (RYR1) is a calcium release channel that mediates efflux of calcium ions from the sarcoplasmic reticulum into the myoplasm during excitation-contraction coupling. Mutations in the RYR1 gene have been detected in about 50% of the patients suffering from malignant hyperthermia (MH), but evidence is accumulating that other genetic defects can also lead to MH in humans. MH is a life-threatening disorder induced by exposure to volatile anesthetics and/or the muscle relaxans succinylcholin during surgical procedures in affected patients. MH leads to skeletal muscle rigidity, hypermetabolism and rapid rise in body temperature. MH is also known in pigs where it is triggered by stress and therefore often referred to as porcine stress syndrome. The existence of an animal model has greatly faciliated the elucidation of the basis for the human disease. This review describes recent advances in the understanding of the physiological action of ryanodine receptors and new insights regarding the relation between different RYR1 mutations and distinct phenotypical appearances.

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Sep 1998
Volume 2 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Leeb T and Leeb T: Ryanodine receptors and their role in genetic diseases (review).. Int J Mol Med 2: 293-593, 1998
APA
Leeb, T., & Leeb, T. (1998). Ryanodine receptors and their role in genetic diseases (review).. International Journal of Molecular Medicine, 2, 293-593. https://doi.org/10.3892/ijmm.2.3.293
MLA
Leeb, T., Brenig, B."Ryanodine receptors and their role in genetic diseases (review).". International Journal of Molecular Medicine 2.3 (1998): 293-593.
Chicago
Leeb, T., Brenig, B."Ryanodine receptors and their role in genetic diseases (review).". International Journal of Molecular Medicine 2, no. 3 (1998): 293-593. https://doi.org/10.3892/ijmm.2.3.293