MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES: P.77 STIM1 heterozygous mutation pathological mechanism in tubular aggregate myopathy

Abstract

Stromal interaction molecule 1 (STIM1) is the calcium sensor of the endo/sarcoplasmic reticulum (E/SR), essential to maintain calcium homeostasis. Together with ORAI1, a CRAC channels (calcium release activated channel), STIM1 participates in intracellular calcium stores replenishing through SOCE (store operated calcium entry). The luminal part senses ER intraluminal Ca2+ and the cytosolic part binds ORAI1. Genetic mutations in STIM1 gene have been described in different clinical conditions. Loss of function mutations have been described in patients presenting CRAC channelopathies.