蛋白酶抑制剂可降低布卢姆综合征患者细胞中自发染色体异常的频率。
Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome.
作者信息
Kennedy A R, Radner B S, Nagasawa H
出版信息
Proc Natl Acad Sci U S A. 1984 Mar;81(6):1827-30. doi: 10.1073/pnas.81.6.1827.
Abstract
Bloom syndrome is an autosomal recessive genetic disease. Cells from patients with this disease are characterized by high levels of chromosome aberrations and sister chromatid exchanges. We show here that the frequency of these chromosomal changes is markedly reduced when the cells are grown in the presence of certain protease inhibitors. In relation to other published data, our results suggest that the primary defect of Bloom syndrome cells may be related to the production of abnormally large amounts of agents, presumably active oxygen species, which are capable of acting like tumor promoters.
摘要
布卢姆综合征是一种常染色体隐性遗传病。患有这种疾病的患者细胞的特征是染色体畸变和姐妹染色单体交换水平较高。我们在此表明，当细胞在某些蛋白酶抑制剂存在的情况下生长时，这些染色体变化的频率会显著降低。结合其他已发表的数据，我们的结果表明，布卢姆综合征细胞的主要缺陷可能与异常大量的物质（可能是活性氧）的产生有关，这些物质能够起到肿瘤促进剂的作用。
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