公开(公告)号：KR1020130119219A

公开(公告)日：2013-10-31

申请号：KR1020120042202

申请日：2012-04-23

Applicant: 가톨릭대학교 산학협력단

Inventor： 이은희 ,  우진석 ,  이건진

IPC: A61K38/17 ,  A61K38/16 ,  A61K48/00 ,  A61P21/00

CPC classification number: A61K38/17 ,  Y10S514/907

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 translation: 目的：提供一种用于预防和治疗肌张力障碍相关疾病（包括STIM1突变）的组合物，以改善患有骨骼肌疾病和其他疾病的患者的肌肉酸钠。 构成：用于预防和治疗选自肌张力减低症，唐氏综合征，肌营养不良症，脑性麻痹，普拉德 - 威利综合征和泰萨克斯病的肌张力减低相关疾病的药物组合物。 包括具有序列号1的氨基酸序列的基质相互作用分子1（STIM1）-E136X蛋白或编码该基因的基因。 STIM1-E136X蛋白或编码该基因的基因增加钙向细胞质内流入骨骼肌的激发收缩机制，但对储存操作的Ca2 +（SOCE）无影响。 该组合物应用于具有先天性STIM1突变的患者。