MONO-AMINE OXIDASE ACTIVITY IN NORMAL AND LESCH-NYHAN FIBROBLASTS
MONO-AMINE OXIDASE ACTIVITY IN NORMAL AND LESCH-NYHAN FIBROBLASTS
复制标题
DOI：
10.1111/j.1471-4159.1978.tb06249.x
复制
发表时间：
1978-01-01
影响因子：
4.7
通讯作者：
BREAKEFIELD, XO
中科院分区：
文献类型：
--
作者：
EDELSTEIN, SB;CASTIGLIONE, CM;BREAKEFIELD, XO
对10例Lesch-Nyhan患者、Lesch-Nyhan变异型皮肤成纤维细胞和11例年龄、性别、种族匹配的正常人皮肤成纤维细胞单胺氧化酶(MAO)活性进行了研究。以色胺为底物在细胞匀浆中测量活性(主要是A型)。各品系的活性因培养条件不同而异。当培养物从对数生长期进入稳定期时，活性增加了3-10倍。当培养物融合时，频繁的喂养或使用新鲜的培养液和血清会降低活性。在连续的传代过程中，每个品系的活性保持相当稳定，但随着培养物的老化，活性增加了3-8倍。在比较对照和Lesch-Nyhan系之间的活性时，细胞培养在标准化条件下进行。莱施-尼汉系的MAO活性平均值约为对照系平均活性的1/4(P<；0.012)。在对照种群中，活性呈双峰型分布。莱施-尼罕线的活动完全落在控制分布的较低部分。一名Lesch-Nyhan患者的细胞缺乏疾病的几个神经系统症状(包括自残)，其MAO活性是对照平均值的6倍，尽管他的次黄嘌呤磷酸核糖转移酶[EC2.4.2.8]活性是对照水平的3%。显然，典型Lesch-Nyhan患者成纤维细胞中MAO活性较低，神经系统症状的严重程度可能与MAO活性水平有关，嘌呤和儿茶酚胺代谢之间的某些相互作用可能会影响神经功能。
Monoamine oxidase (MAO) activity was studied in cultured skin fibroblasts from 10 Lesch-Nyhan patients, a Lesch-Nyhan variant and 11 controls matched for age, sex and race. Activity (predominantly type A) was measured in cell homogenates using tryptamine as the substrate. For each line activity varied with culture conditions. Activity increased 3-10 fold as cultures went from logarithmic to stationary phase of growth. When cultures were confluent, activity was lowered by frequent feedings or the use of fresh medium and serum. Activity for each line remained fairly stable during successive passages, but rose 3-8 fold as cultures became senescent. When comparing activity between control and Lesch-Nyhan lines, cells were cultured under standardized conditions. The mean value of MAO activity in Lesch-Nyhan lines was approximately 1/4 of the mean activity in control lines (P < 0.012). In the control population, the distribution of activity appeared to be bimodal. Activities in the Lesch-Nyhan lines fell completely within the lower portion of the control distribution. Cells from a Lesch-Nyhan patient who lacked several of the neurologic symptoms of the disease (including self-mutilation) had an MAO activity 6-fold greater than the control mean, although his hypoxanthine phosphoribosyltransferase [EC 2.4.2.8] activity was < 3% of control levels. Apparently, MAO activity is low in fibroblasts from typical Lesch-Nyhan patients; the severity of neurologic symptoms may be correlated with levels of MAO activity and some interaction between purine and catecholamine metabolism may affect nerve function.