Yang R C, Yang S L, Chen S W, Jing S H, Sheu L J, Chang S C, Huang Y H, Lee D M, Chao M C
Department of Physiology, Kaohsiung Medical College, Taiwan, Republic of China.
Gaoxiong Yi Xue Ke Xue Za Zhi. 1993 Dec;9(12):668-75.
Lysosomal storage diseases (LSD) are caused by deficient activity of specific lysosomal enzymes. Early diagnosis and selective termination is still the trend of therapy. The purpose of this study was to establish an assay system and investigate the reference range of lysosomal enzyme activity of cultured fetal cells in the Chinese population. Seventy amniotic fluid and 9 chorionic villi samples were collected and cultured in this study. Enzyme activity assay was done by synthesized 4-Mu-binded substrates. The activity was expressed as nmol/mg protein/hour. In cultured amniotic cells, the results showed 14-138 of alpha-glucosidase, 8-133 of alpha-galactosidase, 32-470 of alpha-mannosidase, 101-1121 of alpha-fucosidase, 106-1321 of beta-galactosidase, 15-268 of beta-glucosidase, 11-279 of beta-glucuronidase, 101-1193 of Hexosaminidase A, and 886-6204 of N-acetyl-alpha-glucosaminidase. In cultured chorionic villi samples, it showed 22-335 of alpha-glucosidase, 31-230 of alpha-galactosidase, 47-250 of alpha-mannosidase, 35-218 of alpha-fucosidase, 49-934 of beta-galactosidase, 34-329, of beta-glucosidase, 57-379 of beta-glucuronidase, and 328-3412 of Hexosaminidase A. The enzyme activity was not correlated with the gestation age when sample was obtained. Furthermore, there was no statistical significance among the range of amniotic cells, chorionic villi samples, skin fibroblasts and peripheral leukocytes for each enzyme studied. It is suggested that the synthesis of lysosomal enzymes has been mature since the early fetal state, and the samples obtained as early as 8 weeks of gestation age can be used for early diagnosis of lysosomal storage diseases.
溶酶体贮积病（LSD）是由特定溶酶体酶活性缺乏引起的。早期诊断和选择性终止仍是治疗趋势。本研究的目的是建立一种检测系统，并调查中国人群中培养的胎儿细胞溶酶体酶活性的参考范围。本研究收集了70份羊水样本和9份绒毛样本并进行培养。酶活性检测通过合成的4-Mu结合底物进行。活性以nmol/mg蛋白质/小时表示。在培养的羊水中，结果显示α-葡萄糖苷酶为14 - 138，α-半乳糖苷酶为8 - 133，α-甘露糖苷酶为32 - 470，α-岩藻糖苷酶为101 - 1121，β-半乳糖苷酶为106 - 1321，β-葡萄糖苷酶为15 - 268，β-葡萄糖醛酸酶为11 - 279，己糖胺酶A为101 - 1193，N-乙酰-α-葡萄糖胺酶为886 - 6204。在培养的绒毛样本中，α-葡萄糖苷酶为22 - 335，α-半乳糖苷酶为31 - 230，α-甘露糖苷酶为47 - 250，α-岩藻糖苷酶为35 - 218，β-半乳糖苷酶为49 - 934，β-葡萄糖苷酶为34 - 329，β-葡萄糖醛酸酶为57 - 379，己糖胺酶A为328 - 3412。酶活性与获取样本时的孕周无关。此外，对于所研究的每种酶，羊水细胞、绒毛样本、皮肤成纤维细胞和外周血白细胞的范围之间没有统计学意义。提示溶酶体酶的合成在胎儿早期状态就已成熟，妊娠8周时尽早获取的样本可用于溶酶体贮积病的早期诊断。
