浆细胞疾病中与端粒酶水平升高和端粒缩短相关的非庇护蛋白基因的差异表达

Differential Expression of Non-Shelterin Genes Associated with High Telomerase Levels and Telomere Shortening in Plasma Cell Disorders.

作者信息

Panero Julieta, Stella Flavia, Schutz Natalia, Fantl Dorotea Beatriz, Slavutsky Irma

机构信息

Laboratorio de Genética de Neoplasias Linfoides, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.

Departamento de Clínica Médica, Sección Hematología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

出版信息

PLoS One. 2015 Sep 14;10(9):e0137972. doi: 10.1371/journal.pone.0137972. eCollection 2015.

Abstract

Telomerase, shelterin proteins and various interacting factors, named non-shelterin proteins, are involved in the regulation of telomere length (TL). Altered expression of any of these telomere-associated genes can lead to telomere dysfunction, causing genomic instability and disease development. In this study, we investigated the expression profile of a set of non-shelterin genes involved in essential processes such as replication (RPA1), DNA damage repair pathways (MRE11-RAD50-NBS1) and stabilization of telomerase complex (DKC1), in 35 patients with monoclonal gammopathy of undetermined significance (MGUS) and 40 cases with multiple myeloma (MM). Results were correlated with hTERT expression, TL and clinical parameters. Overall, a significant increase in DKC1, RAD50, MRE11, NBS1 and RPA1 expression along with an upregulation of hTERT in MM compared with MGUS was observed (p≤0.032). Interestingly, in both entities high mRNA levels of non-shelterin genes were associated with short TLs and increased hTERT expression. Significant differences were observed for DKC1 in MM (p ≤0.026), suggesting an important role for this gene in the maintenance of short telomeres by telomerase in myeloma plasma cells. With regard to clinical associations, we observed a significant increase in DKC1, RAD50, MRE11 and RPA1 expression in MM cases with high bone marrow infiltration (p≤0.03) and a tendency towards cases with advanced ISS stage, providing the first evidence of non-shelterin genes associated to risk factors in MM. Taken together, our findings bring new insights into the intricate mechanisms by which telomere-associated proteins collaborate in the maintenance of plasma cells immortalization and suggest a role for the upregulation of these genes in the progression of the disease.

摘要

端粒酶、端粒保护蛋白以及各种相互作用因子(称为非端粒保护蛋白)参与端粒长度(TL)的调节。这些与端粒相关的基因中任何一个的表达改变都可能导致端粒功能障碍,从而引起基因组不稳定和疾病发展。在本研究中,我们调查了一组参与复制(RPA1)、DNA损伤修复途径(MRE11-RAD50-NBS1)和端粒酶复合体稳定(DKC1)等基本过程的非端粒保护基因在35例意义未明的单克隆丙种球蛋白病(MGUS)患者和40例多发性骨髓瘤(MM)患者中的表达谱。结果与hTERT表达、TL和临床参数相关。总体而言,与MGUS相比,MM中DKC1、RAD50、MRE11、NBS1和RPA1的表达显著增加,同时hTERT上调(p≤0.032)。有趣的是,在这两种疾病中,非端粒保护基因的高mRNA水平都与短TL和hTERT表达增加相关。在MM中观察到DKC1有显著差异(p≤0.026),表明该基因在骨髓瘤浆细胞中端粒酶维持短端粒方面起重要作用。关于临床关联,我们观察到在骨髓浸润高的MM病例中DKC1、RAD50、MRE11和RPA1的表达显著增加(p≤0.03),并且在国际分期系统(ISS)晚期病例中有增加的趋势,这为MM中与危险因素相关的非端粒保护基因提供了首个证据。综上所述,我们的研究结果为端粒相关蛋白在维持浆细胞永生化过程中协同作用的复杂机制带来了新的见解,并提示这些基因的上调在疾病进展中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a0d/4569359/40dd95007252/pone.0137972.g001.jpg

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