Antioxidants restore store‐operated Ca<sup>2+</sup> entry in patient‐iPSC‐derived myotubes with tubular aggregate myopathy‐associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein-Reference-Cited by-同舟云学术

Antioxidants restore store‐operated Ca²⁺ entry in patient‐iPSC‐derived myotubes with tubular aggregate myopathy‐associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein

Published:2023-10-26 Issue:11 Volume:5 Page:453-469
ISSN:2573-9832
Container-title:FASEB BioAdvances
language:en
Short-container-title:FASEB BioAdvances

Author:

Sakai‐Takemura Fusako¹^ORCID,Saito Fumiaki²^ORCID,Nogami Ken'ichiro¹³,Maruyama Yusuke¹⁴,Elhussieny Ahmed¹⁵^ORCID,Matsumura Kiichiro²^ORCID,Takeda Shin'ichi¹^ORCID,Aoki Yoshitsugu¹^ORCID,Miyagoe‐Suzuki Yuko¹^ORCID

Affiliation:

1. Department of Molecular Therapy National Institute of Neuroscience, National Center of Neurology and Psychiatry Tokyo Japan

2. Department of Neurology, School of Medicine Teikyo University Tokyo Japan

3. Department of Neurology, Neurological Institute, Graduate School of Medical Science Kyushu University Fukuoka Japan

4. Department of Gene Regulation, Faculty of Pharmaceutical Science Tokyo University of Science Chiba Japan

5. Department of Neurology, Faculty of Medicine Minia University Minia Egypt

Abstract

AbstractStore‐operated Ca2+ entry (SOCE) is indispensable for intracellular Ca2+ homeostasis in skeletal muscle, and constitutive activation of SOCE causes tubular aggregate myopathy (TAM). To understand the pathogenesis of TAM, we induced pluripotent stem cells (iPSCs) from a TAM patient with a rare mutation (c.1450_1451insGA; p. Ile484ArgfsX21) in the STIM1 gene. This frameshift mutation produces a truncated STIM1 with a disrupted C‐terminal inhibitory domain (CTID) and was reported to diminish SOCE. Myotubes induced from the patient's‐iPSCs (TAM myotubes) showed severely impaired SOCE, but antioxidants greatly restored SOCE partly via upregulation of an endoplasmic reticulum (ER) chaperone, BiP (GRP78), in the TAM myotubes. Our observation suggests that antioxidants are promising tools for treatment of TAM caused by reduced SOCE.

Publisher

Wiley

Subject

Cancer Research,Biochemistry, Genetics and Molecular Biology (miscellaneous),Molecular Medicine,Physiology

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