Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms.

Abstract

Ryanodine receptor (RyR) is the Ca(2+)-induced Ca(2+) release channel in cells. RyR1 and RyR2 are its isoforms expressed in the skeletal and cardiac muscles, respectively. Their missense mutations, which are clustered in three regions that correspond to each other, cause hereditary disorders such as malignant hyperthermia and central core disease in skeletal muscle and catecholaminergic polymorphic ventricular tachycardia in cardiac muscle. Their pathogeneses, however, are not well understood. The following hypotheses are favorably discussed in this article: phenotypes with RyR1 and RyR2 mutations are mainly caused by dysregulations of their functions through the interdomain interaction and luminal Ca(2+), respectively.

• Authors: Yasuo Ogawa
• Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun) Vol. 369 Issue 1 Pg. 208-12 (Apr 25 2008) ISSN: 1090-2104 [Electronic] United States
• PMID: 18067858 (Publication Type: Journal Article, Review)

Chemical References

• Protein Isoforms
• Ryanodine Receptor Calcium Release Channel
• Calcium

Topics

• Animals
• Calcium (metabolism)
• Calcium Signaling
• Humans
• Ion Channel Gating
• Muscle Contraction
• Muscle, Skeletal (physiopathology)
• Muscular Diseases (physiopathology)
• Mutation
• Protein Isoforms (metabolism)
• Ryanodine Receptor Calcium Release Channel (genetics, metabolism)
• Structure-Activity Relationship