A chemical chaperone improves muscle function in mice with a RyR1 mutation.
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ABSTRACT:
SUBMITTER: Lee CS
PROVIDER: S-EPMC5376670 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
A chemical chaperone improves muscle function in mice with a RyR1 mutation.
Lee Chang Seok CS Hanna Amy D AD Wang Hui H Dagnino-Acosta Adan A Joshi Aditya D AD Knoblauch Mark M Xia Yan Y Georgiou Dimitra K DK Xu Jianjun J Long Cheng C Amano Hisayuki H Reynolds Corey C Dong Keke K Martin John C JC Lagor William R WR Rodney George G GG Sahin Ergun E Sewry Caroline C Hamilton Susan L SL
Nature communications 20170324
Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca<sup>2+</sup> release channel (RyR1) display muscle weakness and atrophy, but the underlying mechanisms are unclear. Here we show that the I4895T mutation in RyR1 decreases the amplitude of the sarcoplasmic reticulum (SR) Ca<sup>2+</sup> transient, resting cytosolic Ca<sup>2+</sup> levels, muscle triadin content and calsequestrin (CSQ) localization to the junctional SR, and increas ...[more]
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