Effect of CASQ1 Protein Sequence Variants on Ca2+ Binding Ability

  • Lin Wang University of Leeds
DOI: https://doi.org/10.18686/aem.v12i2.356
Keywords: Microscale Thermophoresis, Ni-NTA Chromatography

Abstract

Malignant hyperthermia (MH) is generally observed in people susceptible to volatile anesthetics, usually due to abnormalities in ryanodine receptor 1 (RYR1) leading to Ca2+ dysregulation in the sarcoplasmic reticulum (SR). CASQ1, a Ca2+ binding protein believed to be in the SR, also plays a regulatory role in RYR1. It has been hypothesized that mutations in CASQ1 protein may increase susceptibility to MH cases. We used the CASQ1 p.F186Y and p.I138T variants to compare Ca2+ binding ability with CASQ1 WT. It showed that CASQ1 F and I variants have reduced Ca2+ binding ability compared to CASQ1 WT.

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Published
2023-06-01
Issue
Vol 12, No 2 (2023)
Section
Original Research Article

Copyright (c) 2023 Lin Wang

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