“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Abstract The regulation of intracellular calcium (Ca2+) homeostasis is fundamental to maintain normal functions in many cell types. The ryanodine receptor (RyR), the largest intracellular calcium release channel located on the sarco/endoplasmic reticulum (SR/ER), plays a key role in the intracellula...

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Autores principales:	Yvonne Sleiman, Alain Lacampagne, Albano C. Meli
Formato:	article
Lenguaje:	EN
Publicado:	Nature Publishing Group 2021
Materias:	Cytology QH573-671
Acceso en línea:	https://doaj.org/article/2e323332603b40fba9c18bbfb2a854fd
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spelling	oai:doaj.org-article:2e323332603b40fba9c18bbfb2a854fd2021-11-07T12:04:56Z“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?10.1038/s41419-021-04337-92041-4889https://doaj.org/article/2e323332603b40fba9c18bbfb2a854fd2021-11-01T00:00:00Zhttps://doi.org/10.1038/s41419-021-04337-9https://doaj.org/toc/2041-4889Abstract The regulation of intracellular calcium (Ca2+) homeostasis is fundamental to maintain normal functions in many cell types. The ryanodine receptor (RyR), the largest intracellular calcium release channel located on the sarco/endoplasmic reticulum (SR/ER), plays a key role in the intracellular Ca2+ handling. Abnormal type 2 ryanodine receptor (RyR2) function, associated to mutations (ryanopathies) or pathological remodeling, has been reported, not only in cardiac diseases, but also in neuronal and pancreatic disorders. While animal models and in vitro studies provided valuable contributions to our knowledge on RyR2 dysfunctions, the human cell models derived from patients’ cells offer new hope for improving our understanding of human clinical diseases and enrich the development of great medical advances. We here discuss the current knowledge on RyR2 dysfunctions associated with mutations and post-translational remodeling. We then reviewed the novel human cellular technologies allowing the correlation of patient’s genome with their cellular environment and providing approaches for personalized RyR-targeted therapeutics.Yvonne SleimanAlain LacampagneAlbano C. MeliNature Publishing GrouparticleCytologyQH573-671ENCell Death and Disease, Vol 12, Iss 11, Pp 1-19 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cytology QH573-671
spellingShingle	Cytology QH573-671 Yvonne Sleiman Alain Lacampagne Albano C. Meli “Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
description	Abstract The regulation of intracellular calcium (Ca2+) homeostasis is fundamental to maintain normal functions in many cell types. The ryanodine receptor (RyR), the largest intracellular calcium release channel located on the sarco/endoplasmic reticulum (SR/ER), plays a key role in the intracellular Ca2+ handling. Abnormal type 2 ryanodine receptor (RyR2) function, associated to mutations (ryanopathies) or pathological remodeling, has been reported, not only in cardiac diseases, but also in neuronal and pancreatic disorders. While animal models and in vitro studies provided valuable contributions to our knowledge on RyR2 dysfunctions, the human cell models derived from patients’ cells offer new hope for improving our understanding of human clinical diseases and enrich the development of great medical advances. We here discuss the current knowledge on RyR2 dysfunctions associated with mutations and post-translational remodeling. We then reviewed the novel human cellular technologies allowing the correlation of patient’s genome with their cellular environment and providing approaches for personalized RyR-targeted therapeutics.
format	article
author	Yvonne Sleiman Alain Lacampagne Albano C. Meli
author_facet	Yvonne Sleiman Alain Lacampagne Albano C. Meli
author_sort	Yvonne Sleiman
title	“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
title_short	“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
title_full	“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
title_fullStr	“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
title_full_unstemmed	“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
title_sort	“ryanopathies” and ryr2 dysfunctions: can we further decipher them using in vitro human disease models?
publisher	Nature Publishing Group
publishDate	2021
url	https://doaj.org/article/2e323332603b40fba9c18bbfb2a854fd
work_keys_str_mv	AT yvonnesleiman ryanopathiesandryr2dysfunctionscanwefurtherdecipherthemusinginvitrohumandiseasemodels AT alainlacampagne ryanopathiesandryr2dysfunctionscanwefurtherdecipherthemusinginvitrohumandiseasemodels AT albanocmeli ryanopathiesandryr2dysfunctionscanwefurtherdecipherthemusinginvitrohumandiseasemodels
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“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

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