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首页> 外文期刊>Pathobiology: journal of immunopathology, molecular and cellular biology >Identification of Germline Mutation of PTEN Gene and Analysis of Apoptosis Resistance of the Lymphocytes in a Patient with Cowden Disease.
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Identification of Germline Mutation of PTEN Gene and Analysis of Apoptosis Resistance of the Lymphocytes in a Patient with Cowden Disease.

机译：考登病患者中PTEN基因的种系突变的鉴定和淋巴细胞的抗凋亡性分析。

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摘要

Mutations of the tumor suppressor gene PTEN have been reported in patients with Cowden disease (CD) and in several malignant tumors. We analyzed a germline mutation of the PTEN gene in a patient with CD and identified a 4-bp deletion in exon 8 of the PTEN gene. The same germline mutation was detected in 3 members of her family. The mutated gene was predicted to encode a C-terminal truncated PTEN protein. Immunoblotting analysis revealed that the expression level of the wild-type PTEN protein in the patient's lymphocytes was reduced to almost half the level of the control lymphocytes, and the predicted truncated mutant PTEN could not be detected. Since PTEN is known to function as a negative regulator of the phosphatidylinositol-3-kinase signal pathway that promotes cell survival, the patient's lymphocytes were tested for the resistance against the apoptotic stimulus. It was shown that the patient's lymphocytes were more resistant to apoptosis induced by calcium ionophore than the healthy control lymphocytes. These results indicate that the germline mutation of the PTEN gene and the consequent loss of heterozygous expression may lead to an increase in the survival potential of cells, thereby elucidating a role of PTEN in the pathogenesis of tumor generation and hyperplasia of lymphoid tissue in CD.
机译：在患有考登病（CD）的患者和一些恶性肿瘤中，已经报道了抑癌基因PTEN的突变。我们分析了患有CD的患者中PTEN基因的种系突变，并确定了PTEN基因第8外显子的4 bp缺失。在她的家人的3个成员中检测到相同的种系突变。预测该突变的基因编码一个C端截短的PTEN蛋白。免疫印迹分析表明，患者淋巴细胞中野生型PTEN蛋白的表达水平降低到对照淋巴细胞水平的几乎一半，并且无法检测到预测的截短突变体PTEN。由于已知PTEN发挥磷脂酰肌醇3激酶信号通路的负调节剂的作用，从而促进细胞存活，因此对患者的淋巴细胞进行了针对凋亡刺激的抗性测试。结果表明，与健康对照组淋巴细胞相比，患者的淋巴细胞对钙离子载体诱导的细胞凋亡具有更高的抵抗力。这些结果表明，PTEN基因的种系突变和随之而来的杂合表达的丧失可能导致细胞存活潜力的增加，从而阐明了PTEN在CD淋巴组织的肿瘤发生和增生的发病机理中的作用。

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