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首页> 外文期刊>Journal of Cellular Physiology >Downregulation and aberrant promoter methylation of p16INK4A: a possible novel heritable susceptibility marker to retinoblastoma.
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Downregulation and aberrant promoter methylation of p16INK4A: a possible novel heritable susceptibility marker to retinoblastoma.

机译：Downregulation和异常的启动子甲基化p16INK4A分子:一个可能的小说可遗传的眼癌易感性标记。

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RB loss has long been recognized as the causative genetic alteration underlying retinoblastoma but it is increasingly evident that other alterations are required for the tumor to develop. Therefore, we set out to identify additional inheritable susceptibility markers and new potential preventive and therapeutic targets for retinoblastoma. We focused on the p16INK4A tumor suppressor gene because of its possible role in retinoblastoma pathogenesis and its involvement in predisposition to familial cancer. p16INK4A expression was analyzed in tumor samples from retinoblastoma patients by immunohistochemistry and in peripheral blood cells from both patients and their parents by real-time quantitative reverse transcription-PCR (qRT-PCR). Since promoter methylation is a common mechanism regulating p16INK4A expression, the methylation status of its promoter was also analyzed in blood samples from patients and their parents by methylation-specific PCR. A downregulation of p16INK4A was observed in 55% of retinoblastoma patients. Interestingly, in 56% of the cases showing p16INK4A downregulation at least one of the patients' parents bore the same alteration in blood cells. Analysis of p16INK4A promoter methylation showed hypermethylation in most patients with p16INK4A downregulation and in the parents with the same alteration in p16INK4A expression. The finding that p16INK4A was downregulated both in patients and their parents suggests that this alteration could be a novel inheritable susceptibility marker to retinoblastoma. The observation that p16INK4A downregulation seems to be due to its promoter hypermethylation opens the way for the development of new preventive and therapeutic strategies using demethylating agents.
机译：RB损失一直是公认的基因改变底层视网膜母细胞瘤越来越明显的是,其他的改变是肿瘤发展所必需的。我们确定额外的可继承的易感性标记和新潜力预防和治疗的目标视网膜母细胞瘤。抑制基因,因为它可能的作用视网膜母细胞瘤发病机制及其干预家族性癌症的倾向。肿瘤样本中表达进行了分析视网膜母细胞瘤患者的免疫组织化学并从两个病人外周血细胞和他们的父母通过实时定量一(存在)。启动子甲基化是一种常见的机制调节p16INK4A分子表达,甲基化状态的启动子也分析了血液样本病人和他们的父母methylation-specific PCR。p16INK4A分子在视网膜母细胞瘤的55%病人。显示至少一个差别p16INK4A分子对这些病人的父母同样的改变血细胞。甲基化显示在大多数甲基化而在差别p16INK4A分子对这些患者父母在p16INK4A分子相同的改变表达式。表达下调的病人和他们的父母表明,这种改变可能是小说遗传易感性标记视网膜母细胞瘤。downregulation似乎是由于它的启动子的甲基化开辟了道路开发新的预防和治疗策略使用脱甲基代理。

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