WS03.2 Variation in the number of copies of ribosomal genes in the genomes of cystic fibrosis patients

Kondratyeva, E.; Ершова, Е. С.; Воронкова, А. Ю.; Shmarina, Galina; Krasovsky, S.; Zhekaite, E.; Петрова, Н. В.; Melyanovskaya, Y.; Odinaeva, N.; Вейко, Н. Н.; Kostyuk, Svetlana V.

doi:10.1016/s1569-1993(21)00928-0

Cited by 4 publications

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“…At first glance, it seems paradoxical that people with a high rDNA CN, potentially increasing the ability of cells to respond to stress, do not live to old age ( Malinovskaya et al, 2018 and Figure 1 ). However, the association of such life-shortening diseases as schizophrenia and cystic fibrosis with a large rDNA CN in the genome ( Chestkov et al, 2018 ; Kondratyeva et al, 2021 ) suggests that people who are born with a large rDNA CN contain negative mutations in the genome. The development of such an embryo requires more intense protein synthesis during embryonic development.…”

Section: Discussionmentioning

confidence: 99%

“…The diagram shows the facts obtained so far. In the general population of young people, including a certain number of patients with a genetic pathology shortening life expectancy, rDNA content varies in a wide range from 180–200 to 900–950 copies ( Chestkov et al, 2018 ; Kondratyeva et al, 2021 ). In a subpopulation of healthy individuals, rDNA content varies in a range from 200 to 711 copies.…”

Section: Discussionmentioning

confidence: 99%

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Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people

et al. 2022

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Introduction: Mild cognitive impairments (MCI) accompanying aging are associated with oxidative stress. The ability of cells to respond to stress is determined by the protein synthesis level, which depends on the ribosomes number. Ribosomal deficit was documented in MCI. The number of ribosomes depends, together with other factors, on the number of ribosomal genes copies. We hypothesized that MCI is associated with low rDNA CN in the elderly person genome.Materials and Methods: rDNA CN and the telomere repeat (TR) content were determined in the DNA of peripheral blood leukocytes of 93 elderly people (61–91 years old) with MCI and 365 healthy volunteers (16–91 years old). The method of non-radioactive quantitative hybridization of DNA with biotinylated DNA probes was used for the analysis.Results: In the MCI group, rDNA CN (mean 329 ± 60; median 314 copies, n = 93) was significantly reduced (p < 10–15) compared to controls of the same age with preserved cognitive functions (mean 412 ± 79; median 401 copies, n = 168) and younger (16–60 years) control group (mean 426 ± 109; median 416 copies, n = 197). MCI is also associated with a decrease in TR DNA content. There is no correlation between the content of rDNA and TR in DNA, however, in the group of DNA samples with rDNA CN > 540, TR content range was significantly narrowed compared to the rest of the sample.Conclusion: Mild cognitive impairment is associated with low ribosomal genes copies in the elderly people genomes. A low level of rDNA CN may be one of the causes of ribosomal deficit that was documented in MCI. The potential possibilities of using the rDNA CN indicator as a prognostic marker characterizing human life expectancy are discussed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people

et al. 2022

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Study of human ribosomal gene complex in cystic fibrosis

Kondratyeva

Ershova

Nikolaeva

et al. 2023

Pulʹmonologiâ (Mosk.)

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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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Ribosomal, Telomere, and Mitochondrial Repeat Copy Number Variations in Female Genomes during Ovarian Stimulation and the Prediction of In Vitro Fertilization Outcome: A Pilot Study

Veiko,

Ershova,

Porokhovnik

et al. 2023

Front. Biosci. (Schol Ed)

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Introduction: Individual risk assessment of assisted reproductive technologies is essential for personalized treatment strategies. Genetic and genomic indicators of the response to stress by cells could provide individual prognostic indicators for in vitro fertilization (IVF) success. Such indicators include the copy number of ribosomal genes (rDNA), which modulates the level of protein synthesis, and the abundance of mitochondrial DNA (mtDNA), which provides the cell with energy, while the content of telomere repeats (TRs) indicate the biological age. Materials and Methods: The contents of the three repeats in DNA isolated from blood leukocytes of 40 women before and after ovarian stimulation were assayed prior to IVF. Then, we divided the women into a successful IVF group, IVF+ (N = 17, 7 cases of twins), and a group of failed cases, IVF– (N = 23). The control group included 17 non-pregnant women with natural childbirth in the past. The nonradioactive quantitative hybridization (NQH) method was applied to assay the genome repeat contents. Results: The number of rDNA copies in the IVF+ group was significantly higher than in the IVF– group (p < 10-8). The number of mtDNA copies in the IVF+ group also exceeded those in the IVF– group (p < 0.001), whereas the TR content in the two groups differed, albeit, non-significantly (p < 0.03). Following the ovarian stimulation, the rDNA copy numbers did not change, while the contents of the mtDNA and TR varied significantly. Conclusions: This pilot study has shown that rDNA abundance in blood leukocytes can be considered a stable and effective predictor. Very low numbers of ribosomal repeat copies (<330) entail a high risk of IVF failure. However, a combination of numerous mtDNA and TRs, provided that rDNA content is not very low, increases the probability of multiple pregnancies.

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WS03.2 Variation in the number of copies of ribosomal genes in the genomes of cystic fibrosis patients

Cited by 4 publications

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Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people

Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people

Study of human ribosomal gene complex in cystic fibrosis

Ribosomal, Telomere, and Mitochondrial Repeat Copy Number Variations in Female Genomes during Ovarian Stimulation and the Prediction of In Vitro Fertilization Outcome: A Pilot Study

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