Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle.

ABSTRACT: Stromal interaction molecule 1 (STIM1) is the main protein that, along with Orai1, mediates store-operated Ca²⁺ entry (SOCE) in skeletal muscle. Abnormal SOCE due to mutations in STIM1 is one of the causes of human skeletal muscle diseases. STIM1-R304Q (a constitutively active form of STIM1) has been found in human patients with skeletal muscle phenotypes such as muscle weakness, myalgia, muscle stiffness, and contracture. However, the pathological mechanism(s) of STIM1-R304Q in skeletal muscle have not been well studied. To examine the pathological mechanism(s) of STIM1-R304Q in skeletal muscle, STIM1-R304Q was expressed in mouse primary skeletal myotubes, and the properties of the skeletal myotubes were examined using single-myotube Ca²⁺ imaging, transmission electr

SUBMITTER: Park JH 

PROVIDER: S-EPMC8394508 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature