Diseases associated with altered ryanodine receptor activity

W J Durham; X H T Wehrens; S Sood; S L Hamilton

doi:10.1007/978-1-4020-6191-2_10

Diseases associated with altered ryanodine receptor activity

Subcell Biochem. 2007:45:273-321. doi: 10.1007/978-1-4020-6191-2_10.

Authors

W J Durham¹, X H T Wehrens, S Sood, S L Hamilton

Affiliation

¹ Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

PMID: 18193641
DOI: 10.1007/978-1-4020-6191-2_10

Abstract

Mutations in two intracellular Ca2+ release channels or ryanodine receptors (RyR1 and RyR2) are associated with a number of human skeletal and cardiac diseases. This chapter discusses these diseases in terms of known mechanisms, controversies, and unanswered questions. We also compare the cardiac and skeletal muscle diseases to explore common mechanisms.

Publication types

Review

MeSH terms

Arrhythmias, Cardiac / physiopathology*
Calcium / physiology*
Cardiomyopathies / physiopathology
Diabetic Angiopathies / physiopathology
Heart Failure / physiopathology
Heat Stroke / physiopathology*
Homeostasis / physiology
Humans
Malignant Hyperthermia / physiopathology*
Muscle, Striated / physiology
Mutation
Myopathy, Central Core / physiopathology
Ryanodine Receptor Calcium Release Channel / genetics*
Ryanodine Receptor Calcium Release Channel / physiology*

Substances

Ryanodine Receptor Calcium Release Channel
Calcium