Abstract:
PURPOSE: A composition for preventing and treating muscular hypotonia related diseases including STIM1 mutation is provided to improve muscular hyponia in patients suffering from skeletal muscular diseases and other diseases as well. CONSTITUTION: A pharmaceutical composition for preventing and treating muscular hypotonia related diseases selected among muscular hypotonia, Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, and Tay-Sachs disease. Stromal interaction molecule 1 (STIM1)-E136X protein having amino acid sequences of sequence number 1 or a gene coding the same is included. The STIM1-E136X protein or the gene coding the same increases calcium influx into cytoplasm for excitation-contraction mechanism of skeletal muscles, but no effect on store-operated Ca2+-entry (SOCE). The composition is applied to the patient has innate STIM1 mutation.
Abstract:
본 발명은 MG53 (mitsugumin 53) 저해제를 포함하는, 브로디병 또는 브로디신드롬의 예방 또는 치료용 약학 조성물, 및 이를 이용한 질환 치료 방법에 관한 것이다. 또한, 본 발명은 MG53 및 SERCA1a (sarcoplasmic reticulum Ca 2 + -ATPase 1a)의 상호작용을 억제하는 약제를 브로디병 또는 브로디신드롬을 비롯한 근육 질환 치료제로 결정함으로써, 근육 질환 치료제를 스크리닝하는 방법에 관한 것이다.
Abstract:
The present invention relates to a composition for the prevention or treatment of brody disease and brody syndrome comprising a mitsugumin 53 (MG53) inhibitor, and a disease treatment method using the composition for the prevention or treatment of brody disease and brody syndrome comprising a MG53 inhibitor. In addition, the present invention relates to a method for screening a therapeutic agent for muscle diseases by determining a medicine which inhibits interaction between MG53 and sarcoplasmic reticulum Ca2+-ATPase 1a (SERCA1a) as the therapeutic agent for muscle diseases including brody disease and brody syndrome.