肾病性胱氨酸病患者培养的肌管中的胱氨酸蓄积
Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
作者信息
Harper G S, Bernardini I, Hurko O, Zuurveld J, Gahl W A
机构信息
Human Genetics Branch, NICHD, Bethesda, MD 20892.
出版信息
Biochem J. 1987 May 1;243(3):841-5. doi: 10.1042/bj2430841.
Abstract
Sorted muscle cells, cultured from a patient with nephropathic cystinosis, stored 100 times normal amounts of cystine. Subcellular fractionation and density-gradient centrifugation confirmed that the cystine was located in a lysosomal compartment. 2. Myoblasts from cystinotic patients in culture underwent fusion to myotubes in a normal fashion. 3. The free thiol cysteamine effectively depleted cystinotic-muscle cells of cystine. 4. Cultured myoblast and myotubes offered a unique system for investigating the effects of lysosomal storage on differentiated cell functions.
摘要
从一名肾病性胱氨酸病患者身上培养的分选肌肉细胞，储存的胱氨酸量是正常量的100倍。亚细胞分级分离和密度梯度离心证实胱氨酸位于溶酶体区室中。2. 培养的胱氨酸病患者的成肌细胞以正常方式融合形成肌管。3. 游离硫醇半胱胺有效地耗尽了胱氨酸病肌肉细胞中的胱氨酸。4. 培养的成肌细胞和肌管为研究溶酶体储存对分化细胞功能的影响提供了一个独特的系统。
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