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Article

RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.

Frontiers in immunology - 1 Jan 2026

Li Huiying, Andrade Pamela V, Ceren Irem Huriye, Ruiz Alexis, Silva Aline I, Farias Murilo F, Zorzeto Thalles S, Vainzof Mariz, Zorzato Francesco, Silva Helga C A, Treves Susan

Abstract excerpt

Ryanodine receptor 1 (RyR1) is a key intracellular Ca2+ release channel primarily expressed in skeletal muscle, but also in some immune cells. Gain-of-function RYR1 mutations are the most common cause of the pharmacogenetic disorder malignant hyperthermia susceptibility. Compatibly, mice knocked in for gain of function Ryr1 mutations develop malignant hyperthermia but also show subtle changes in their immune...

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Share to B-Lymphocytes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Source

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Identifiers

PMID: 42577080
DOI: 10.3389/fimmu.2026.1876709
PMCID: PMC13453734

Genes

RYR1
CD86
CD40

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.PMID 42577080Read ↗

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