Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization

Yanhui Li; Jinhong Wei; Wenting Guo; Bo Sun; John Paul Estillore; Ruiwu Wang; Ayhan Yoruk; Thomas M Roston; Shubhayan Sanatani; Arthur A M Wilde; Michael H Gollob; Jason D Roberts; Zian H Tseng; Henrik K Jensen; S R Wayne Chen

doi:10.1161/CIRCEP.121.010013

Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization

Circ Arrhythm Electrophysiol. 2021 Sep;14(9):e010013. doi: 10.1161/CIRCEP.121.010013. Epub 2021 Sep 1.

Authors

Yanhui Li^{1

2}, Jinhong Wei¹, Wenting Guo¹, Bo Sun^{1

3}, John Paul Estillore¹, Ruiwu Wang¹, Ayhan Yoruk⁴, Thomas M Roston⁵, Shubhayan Sanatani⁶, Arthur A M Wilde^{7

8}, Michael H Gollob^{9

10}, Jason D Roberts¹¹, Zian H Tseng⁴, Henrik K Jensen¹², S R Wayne Chen¹

Affiliations

¹ Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., B.S., J.P.E., R.W., S.R.W.C.).
² Department of Internal Medicine, Institute of Hypertension, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China (Y.L.).
³ Medical School, Kunming University of Science and Technology, China (B.S.).
⁴ Cardiac Electrophysiology Section, Division of Cardiology, Department of Medicine, University of California, San Francisco (A.Y., Z.H.T.).
⁵ Division of Cardiology, Department of Medicine (T.M.R.), University of British Columbia, Vancouver, Canada.
⁶ Child and Family Research Institute, Department of Pediatrics (S.S.), University of British Columbia, Vancouver, Canada.
⁷ Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centre, location AMC, the Netherlands (A.A.M.W.).
⁸ Member of the European Reference Network 'ERN GUARD-Heart' (A.A.M.W.).
⁹ Inherited Arrhythmia and Cardiomyopathy Program, Arrhythmia Service, Division of Cardiology, Toronto General Hospital (M.H.G.), University of Toronto, ON, Canada.
¹⁰ Department of Physiology (M.H.G.), University of Toronto, ON, Canada.
¹¹ Population Health Research Institute, McMaster University and Hamilton Health Sciences, Hamilton, ON, Canada (J.D.R.).
¹² Department of Cardiology, Aarhus University Hospital and Department of Clinical Medicine, Health, Aarhus University, Denmark (H.K.J.).

PMID: 34546788
DOI: 10.1161/CIRCEP.121.010013

Abstract

[Figure: see text].

Keywords: caffeine; death; mutation; phenotype; ryanodine.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Arrhythmias, Cardiac / diagnosis
Arrhythmias, Cardiac / genetics*
Arrhythmias, Cardiac / metabolism
Calcium / metabolism*
Calcium Signaling / genetics
Exercise Test
Humans
Mutation*
Myocardium / metabolism*
Myocardium / pathology
Phenotype
Ryanodine Receptor Calcium Release Channel / genetics*
Ryanodine Receptor Calcium Release Channel / metabolism

Substances

Ryanodine Receptor Calcium Release Channel
Calcium

Abstract

Publication types

MeSH terms

Substances

Grants and funding