溶酶体胱氨酸会增强细胞凋亡并导致胱氨酸病的表型。

Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis.

作者信息

Thoene Jess G

机构信息

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA 70112, USA.

出版信息

Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18;37(1):8-9.

PMID:15719032

Abstract

Nephropathic cystinosis is a lethal inborn error of metabolism that destroys kidney function by age 10 years. It is characterized by lysosomal cystine accumulation. How the cystine causes the phenotype is an open question. We propose that during apoptosis, permeablized lysosomes permit cystine to reach the cytosol where mixed disulfide formation occurs, augmenting apoptosis by interaction with a variety of pro-apoptotic proteins.

摘要

肾病性胱氨酸病是一种致命的先天性代谢缺陷病，会在10岁前破坏肾功能。其特征是溶酶体中胱氨酸蓄积。胱氨酸如何导致该表型仍是一个悬而未决的问题。我们提出，在细胞凋亡过程中，通透性增加的溶酶体使胱氨酸进入胞质溶胶，在那里形成混合二硫键，通过与多种促凋亡蛋白相互作用增强细胞凋亡。