Schulman J D, Bradley K H
J Exp Med. 1970 Dec 1;132(6):1090-104. doi: 10.1084/jem.132.6.1090.
The metabolism of amino acids, peptides, and disulfides has been investigates in cultured skin fibroblasts from normal individuals and patients with cystinosis. Human fibroblast lysosomes closely resemble the lysosomes of mouse peritoneal macrophages in having an apparent permeability barrier to amino acids and peptides with molecular weights of greater than 220-230. Cystinotic and normal cells behave similarly in this regard. Normal cells do not undergo lysosomal swelling when exposed to cysteine-penicillamine disulfides, while cystinotic cells are prominently vacuolized under these conditions. Normal lysosomes may have a specific mechanism for the disposal of cystine, and deficient activity of this mechanism in cystinotic lysosomes could result in cystine storage therein. The demonstration that human fibroblasts can be used conveniently to study lysosomal metabolism of small substrates may facilitate investigations of these aspects of lysosomal function in a variety of genetic diseases of man.
对正常个体和胱氨酸病患者的培养皮肤成纤维细胞中氨基酸、肽和二硫键的代谢进行了研究。人成纤维细胞溶酶体与小鼠腹腔巨噬细胞的溶酶体非常相似，对分子量大于220 - 230的氨基酸和肽具有明显的通透屏障。在这方面，胱氨酸病细胞和正常细胞表现相似。正常细胞在暴露于半胱氨酸 - 青霉胺二硫键时不会发生溶酶体肿胀，而胱氨酸病细胞在这些条件下会显著空泡化。正常溶酶体可能有一种处理胱氨酸的特定机制，而胱氨酸病溶酶体中该机制的活性不足可能导致胱氨酸在其中储存。证明人成纤维细胞可方便地用于研究小底物的溶酶体代谢，这可能有助于对人类多种遗传疾病中溶酶体功能的这些方面进行研究。
