Study of human ribosomal gene complex in cystic fibrosis

Q4 Medicine

Pulmonologiya Pub Date : 2023-02-10 DOI:10.18093/0869-0189-2023-33-1-7-16

E. Kondratyeva, E. Ershova, E. Nikolaeva, N. N. Veyko, V. Sherman, Y. Mel’yanovskaya, S. Krasovskiy, S. Kostyuk

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引用次数: 0

Abstract

Increasing the life expectancy of patients with CF is an urgent healthcare task all over the world. According to the Register of patients with cystic fibrosis in the Russian Federation (2020), the number of patients over 18 years of age is 26.5%. Assumably, cystic fibrosis can be used as a model of accelerated aging to study the aging process in general.Aim of the study was to analyze the number of rDNA copies in a sample of cystic fibrosis patients at different ages and with lethal outcome in relation to lung function, complications, and respiratory tract infections.Methods. We studied DNA samples isolated by the standard method from peripheral blood leukocytes of 277 patients diagnosed with cystic fibrosis. 998 DNA samples from healthy volunteers were used as a control group.Results. The study showed that the genomes of patients with CF contain more rDNA copies than those of control patients. The greatest number of copies of ribosomal genes was observed in DNA samples from deceased patients (p < 0.001) and was associated with more severe disease course. Among all CF patients, the largest number of rDNA copies in the genome was registered in patients with the lowest FEV1 values (less than 40%). It was found that patients with chronic Burkholderia cepacia complex infection had a significantly higher number of copies of ribosomal repeats than the total sample (p = 0.001) and the adults (p = 0.014). The number of ribosomal repeats did not differ between patients with other chronic respiratory tract infections.Conclusion. In the group of deceased patients, the patients with low respiratory function and Burkholderia cepacia complex infection had the highest number of rDNA copies in the genome, and the differences were significant. It can be assumed that the number of rDNA copies in the genome of CF patients is an additional prognostic marker that is associated with the patient’s life expectancy.

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囊性纤维化中人核糖体基因复合体的研究

提高CF患者的预期寿命是世界范围内一项紧迫的医疗任务。根据俄罗斯联邦囊性纤维化患者登记册(2020年)，18岁以上的患者占26.5%。假设囊性纤维化可以作为加速衰老的一个模型来研究一般的衰老过程。本研究的目的是分析不同年龄囊性纤维化患者样本中的rDNA拷贝数，这些患者的死亡结局与肺功能、并发症和呼吸道感染有关。我们研究了用标准方法从277例诊断为囊性纤维化的患者外周血白细胞中分离的DNA样本。998份健康志愿者的DNA样本作为对照组。研究表明，CF患者的基因组中含有比对照组患者更多的rDNA拷贝数。在死亡患者的DNA样本中观察到最多的核糖体基因拷贝数(p < 0.001)，并且与更严重的疾病病程相关。在所有CF患者中，FEV1值最低的患者(小于40%)基因组中rDNA拷贝数最多。结果发现，慢性洋葱伯克霍尔德菌复合感染患者的核糖体重复数明显高于总样本(p = 0.001)和成人(p = 0.014)。其他慢性呼吸道感染患者的核糖体重复序列数目无差异。在死亡患者组中，呼吸功能低下和洋葱伯克霍尔德菌复合感染的患者基因组中rDNA拷贝数最高，且差异显著。可以假设CF患者基因组中rDNA拷贝数是另一个与患者预期寿命相关的预后指标。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pulmonologiya Medicine-Pulmonary and Respiratory Medicine

CiteScore

1.40

自引率

0.00%

发文量

期刊介绍： The aim of this journal is to state a scientific position of the Russian Respiratory Society (RRS) on diagnosis and treatment of respiratory diseases based on recent evidence-based clinical trial publications and international consensuses. The most important tasks of the journal are: -improvement proficiency qualifications of respiratory specialists; -education in pulmonology; -prompt publication of original studies on diagnosis and treatment of respiratory diseases; -sharing clinical experience and information about pulmonology service organization in different regions of Russia; -information on current protocols, standards and recommendations of international respiratory societies; -discussion and consequent publication Russian consensus documents and announcement of RRS activities; -publication and comments of regulatory documents of Russian Ministry of Health; -historical review of Russian pulmonology development. The scientific concept of the journal includes publication of current evidence-based studies on respiratory medicine and their discussion with the participation of Russian and foreign experts and development of national consensus documents on respiratory medicine. Russian and foreign respiratory specialists including pneumologists, TB specialists, thoracic surgeons, allergists, clinical immunologists, pediatricians, oncologists, physiologists, and therapeutists are invited to publish article in the journal.