Schneider J A, Rosenbloom F M, Bradley K H, Seegmiller J E
Section on Human Biochemical Genetics, National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Biochem Biophys Res Commun. 1967 Nov 30;29(4):527-31. doi: 10.1016/0006-291x(67)90516-5.
The presence of a significantly increased content of free-cystine in skin fibroblasts from both homozygotes and heterozygotes for cystinosis emphasizes the central role of cystine in this disease, even though the primary defect responsible for cystine accumulation is yet to be determined. The studies described in this communication provide evidence that cystine is compartmentalized in a subcellular location in cystinotic cells. In fact, the very growth of cystinotic fibroblasts in the presence more than 100 times the usual content of free-cystine is evidence that the accumulated cystine is not freely dispersed throughout the cell, since would otherwise inhibit many enzymes requiring free sulfhydryl groups for activity (Patrick, 1965). We have no evidence as to whether the cystine is located in a known subcellular organelle or in a previously unrecognized location. Skin fibroblasts may provide a convenient tool to pursue these questions.
胱氨酸贮积症纯合子和杂合子皮肤成纤维细胞中游离胱氨酸含量显著增加，这突出了胱氨酸在该疾病中的核心作用，尽管导致胱氨酸积累的原发性缺陷尚待确定。本通讯中描述的研究提供了证据，表明胱氨酸在胱氨酸贮积症细胞的亚细胞位置中被分隔开来。事实上，在游离胱氨酸含量超过正常水平100倍以上的情况下，胱氨酸贮积症成纤维细胞仍能生长，这证明积累的胱氨酸并非在整个细胞中自由分散，否则会抑制许多需要游离巯基来发挥活性的酶（帕特里克，1965年）。我们没有证据表明胱氨酸是位于已知的亚细胞器中还是位于以前未被识别的位置。皮肤成纤维细胞可能为研究这些问题提供一个便利的工具。
