Gitomer W L, Pak C Y
Center for General Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center at Dallas, USA.
J Urol. 1996 Dec;156(6):1907-12.
We reviewed the literature describing recent advances in the understanding of the nature of the transport proteins involved in the renal transport of cystine, properties of the solute carrier family 3, member 1 (SLC3A1) gene, which is involved in renal cystine transport, and the mutations reported in this gene, which have been shown to be the causative factor in approximately half of the cases of type I cystinuria studied.
The MEDLINE data base from 1966 to date and the internet online mendelian inheritance in man were searched using cystinuria, cystine crossed with biological transporters and cystine transporter as key words. Selected citations within these references were also reviewed.
The SLC3A1 gene has been shown to code for a protein that, when expressed in Xenopus oocytes, confers on these cells the ability to transport cystine, arginine, lysine and ornithine. To date 21 different mutations and 9 polymorphisms have been reported in the SLC3A1 gene isolated from cystinuric patients.
Type I cystinuria appears to be due to mutations in the SLC3A1 gene, while the molecular genetic determinants of types II and III cystinuria remain to be delineated.
我们回顾了相关文献，这些文献描述了在理解参与肾胱氨酸转运的转运蛋白的性质、参与肾胱氨酸转运的溶质载体家族3成员1（SLC3A1）基因的特性以及该基因中报道的突变方面的最新进展，这些突变已被证明是大约一半所研究的I型胱氨酸尿症病例的致病因素。
使用胱氨酸尿症、胱氨酸与生物转运体交叉以及胱氨酸转运体作为关键词，检索了1966年至今的MEDLINE数据库和人类在线孟德尔遗传数据库。还对这些参考文献中的选定引文进行了综述。
已证明SLC3A1基因编码一种蛋白质，当该蛋白质在非洲爪蟾卵母细胞中表达时，赋予这些细胞转运胱氨酸、精氨酸、赖氨酸和鸟氨酸的能力。迄今为止，从胱氨酸尿症患者中分离出的SLC3A1基因已报道了21种不同的突变和9种多态性。
I型胱氨酸尿症似乎是由于SLC3A1基因的突变所致，而II型和III型胱氨酸尿症的分子遗传决定因素仍有待确定。
