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Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.

ABSTRACT: Mutations in RyR alter the cell's Ca²⁺ homeostasis and can cause serious health problems for which few effective therapies are available. Until recently, there was little structural context for the hundreds of mutations linked to muscular disorders reported for this large channel. Growing knowledge of the three-dimensional structure of RyR starts to illustrate the fine control of Ca²⁺ release. Current efforts directed towards understanding how disease mutations impinge in such processes will be crucial for future design of novel therapies. In this review article we discuss the up-to-date information about mutations according to their role in the 3D structure, and classified them to provide context from a structural perspective.

SUBMITTER: Iyer KA

PROVIDER: S-EPMC9908851 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.

Iyer Kavita A KA Barnakov Vadim V Samsó Montserrat M

Current opinion in pharmacology 20221212

Mutations in RyR alter the cell's Ca<sup>2+</sup> homeostasis and can cause serious health problems for which few effective therapies are available. Until recently, there was little structural context for the hundreds of mutations linked to muscular disorders reported for this large channel. Growing knowledge of the three-dimensional structure of RyR starts to illustrate the fine control of Ca<sup>2+</sup> release. Current efforts directed towards understanding how disease mutations impinge in s ...[more]

PMID: 36516687

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