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毛细血管扩张性共济失调是一罕见的临床表现不一的常染色体隐性遗传病。童年发病,约10岁需靠轮椅生活。它除小脑变性外,还有甲胎蛋白升高,多种免疫缺陷、生长迟缓、早衰、染色体异位、易患淋巴网状细胞瘤且对电离辐射和拟放疗药物高度敏感。近来特拉维夫的Sackler医学院为首的多国研究组发现了缺陷基因,该基因能引起多效性疾病(pleiotr—opic disorder,ATM)。它不但导致毛细血管扩张性共济失调,还可能是许多细胞变化过程的关键调节因子,并与普遍人群的肿瘤发生有关。ATM蛋白与磷酸肌醇—3激酶十分相似,参与胰岛素依赖性葡萄糖运输和多种生长因子反应。蛋白的另一部分与几种酵母蛋白相似,参与DNA受辐射后细胞循环的修复。
Ataxia telangiectasia is a rare autosomal recessive disease with different clinical manifestations. Childhood onset, about 10-year-old wheelchair living. In addition to cerebellar degeneration, there are elevated alpha-fetoprotein, a variety of immune defects, growth retardation, premature aging, chromosomal ectopic, susceptible to lymphoid reticular cell tumor and is highly sensitive to ionizing radiation and quasi-radiotherapy drugs. Recently, a multinational team headed by Sackler School of Medicine in Tel Aviv discovered a defective gene that causes pleiotr-opic disorder (ATM). It not only causes ataxia telangiectasia, but also may be a key regulator of many cellular processes and is associated with tumorigenesis in the general population. ATM proteins are very similar to phosphoinositide-3 kinase and are involved in insulin-dependent glucose transport and multiple growth factor responses. The other part of the protein is similar to several yeast proteins and is involved in the repair of the cellular cycle following DNA irradiation.