Laboratorio de Interacciones Biomoleculares y Cáncer, Instituto de Física, Universidad Autónoma de San Luis Potosí, San Luis Potosí, SLP, México.
Catedra CONACyT, Laboratorio de Interacciones Biomoleculares y Cáncer, Instituto de Física, Universidad Autónoma de San Luis Potosí, San Luis Potosí, SLP, México.
PLoS One. 2020 Jun 5;15(6):e0234337. doi: 10.1371/journal.pone.0234337. eCollection 2020.
Loss of retinoblastoma (RB) function in the cone cells during retina development is necessary but not sufficient for retinoblastoma development. It has been reported that in the absence of RB activity, a retinoma is generated, and the onset of retina cancer occurs until the p53 pathway is altered. Unlike other types of cancer, in retinoblastoma the p53 tumour suppressor is mostly wild type, although its two primary regulators, MDMX and MDM2, are commonly dysregulated. A mutated RB form is inherited in around 35% of the cases, but normally two, somatic mutations are needed to alter the RB function. Here we investigated the mRNA levels of RB, p53, MDMX and MDM2 in peripheral blood samples of retinoblastoma patients to monitor the pathway status of p53 in somatic cells. We sought to investigate the involvement of these genes in the development of retina cancer, with the aim of identifying biomarkers for early diagnosis of this disease.
在视网膜发育过程中，视母细胞瘤（RB）功能的丧失对于视母细胞瘤的发生是必要的，但不是充分的。据报道，在 RB 活性缺失的情况下，会产生视网膜母细胞瘤，直到 p53 通路发生改变，视网膜癌才会发生。与其他类型的癌症不同，在视网膜母细胞瘤中，p53 肿瘤抑制因子大多为野生型，尽管其两个主要调节因子 MDMX 和 MDM2 通常失调。约 35%的病例中遗传了突变的 RB 形式，但通常需要两个体细胞突变来改变 RB 的功能。在这里，我们研究了视网膜母细胞瘤患者外周血样本中的 RB、p53、MDMX 和 MDM2 的 mRNA 水平，以监测体细胞中 p53 通路的状态。我们试图研究这些基因在视网膜癌发展中的作用，目的是确定用于该疾病早期诊断的生物标志物。
