Biomarkers for genome instability in some genetic disorders: a pilot study

Савина, Н. В.; Smal, Marharyta P.; Kuzhir, Tatyana D.; Egorova, Tatyana; Хурс, О. М.; Polityko, A; Гончарова, Р. И.

doi:10.3109/1354750x.2011.651157

Cited by 4 publications

(4 citation statements)

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“…Many studies regarding increased DNA damage in DS are in agreement with the observations of the present study. [ 8 11 41 ]…”

Section: Discussionmentioning

confidence: 99%

“…Genome integrity in FA and DS has diagnostic and prognostic importance because of the evident relationship between genome instability and both DNA damage and cancer predisposition. [ 11 ] DNA damage is detected by Comet assay represented by an increase of DNA fragments that have migrated out of the cell nucleus in the form of a characteristic streak similar to the tail of a comet. [ 12 ]…”

Section: Introductionmentioning

confidence: 99%

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Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants

et al. 2015

Ann Med Health Sci Res

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Background:Oxidative stress plays a major role in the pathogenesis of leukemia-prone diseases such as Fanconi anemia (FA) and Down syndrome (DS)Aim:To explore the oxidative stress state in children with DS and FA by estimating the levels of antioxidants (e.g., malondialdehyde [MDA], total antioxidant capacity, and superoxide dismutase [SOD] activity) and DNA damage, and to evaluate of the effect of antioxidant treatment on these patients.Subjects and methodsThe study included 32 children clinically diagnosed with (15 patients) and FA (17 patients) in addition to 17 controls matched for age and sex. MDA, total antioxidant capacity, SOD activity, and DNA damage were measured. Antioxidants including Vitamin A, E, and C were given to the patients according to the recommended daily allowance for 6 months. Clinical follow-up and re-evaluation were conducted for all patients. Laboratory tests including complete blood count, karyotyping, DNA damage, and oxidative stress were re-evaluated. Statistical analysis was performed using statistical computer program Statistical Package for the Social Sciences version 14.0.Results:Children with FA and DS had elevated levels of oxidative stress and more DNA damage than controls. Oxidative stress parameters and DNA damage improved in FA and DS patients after antioxidant administration.Conclusion:Early administration of antioxidants to FA and DS patients is recommended for slowing of the disease course with symptoms amelioration and improvement of general health.

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“…Many studies regarding increased DNA damage in DS are in agreement with the observations of the present study. [ 8 11 41 ]…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants

et al. 2015

Ann Med Health Sci Res

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“…To evaluate repair efficiency of 4OHE2-induced DNA damage PBLs were washed twice with RPMI by centrifugation followed by incubation in fresh RPMI medium for 2 h at 37 °C. DNA repair efficiency (DRE) was estimated as the percent of eliminated DNA damage relative to their induced level as described by Savina et al [20] in the following modification: DRE = [(% tail DNA after 4OHE2 treatment -% tail DNA after repair )/% tail DNA after 4OHE2 treatment ] × 100%, where % tail DNA after 4OHE2 treatment is % tail DNA after 17 h of PBLs incubation in RPMI with 4OHE2; % tail DNA after repair is % tail DNA after washing PBLs with RPMI and incubation in fresh RPMI medium.…”

Section: Methodsmentioning

confidence: 99%

Sensitivity to 4-Hydroxyestradiol and Dna Repair Efficiency in Peripheral Blood Lymphocytes of Endometrial Cancer Patients

Buchynska¹,

Brieieva²

2018

Exp. Onc.

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Background: The development of hormone-dependent cancers, including endometrial carcinomas, in great part may be mediated by the genotoxic effects of estrogen metabolites, among which 4-hydroxyestradiol (4OHE2) is characterized by the most prominent DNA-damaging properties. It is assumed that the individual sensitivity to the 4OHE2 may determine the predisposition to endometrial cancer (EС). Aim: To analyze the sensitivity of peripheral blood lymphocytes (PBLs) of EC patients to the 4OHE2 and to evaluate the repair efficiency of 4OHE2-induced DNA damage. Materials and Methods: The study was performed on the PBLs of 53 EC patients and 20 healthy women. The level of DNA damage was measured using the comet assay and was expressed as % tail DNA. The DNA repair efficiency (%) was evaluated by determining the ratio between the amount of repaired DNA damage and the level of 4OHE2-induced damage that appeared after incubation of PBLs with 4OHE2. Results: In PBLs of EC patients, a higher level of 4OHE2-induced DNA damage (32.0 ± 2.2% tail DNA) and lower DNA repair efficiency (34.0 ± 4.5%) was observed compared to PBLs of healthy women (22.3 ± 2.3% tail DNA and 48.8 ± 4.5%, respectively). PBLs of EC patients with deep tumor invasion of myometrium were characterized by more prominent decrease of DNA repair than those with less invasive tumor (< ½ of myometrium) (20.9 ± 7.8 and 43.7 ± 6.7%, respectively). Furthermore, lower DNA repair efficiency was detected in the PBLs of EC patients with a family history of cancer compared to this parameter in patients with sporadic tumors (20.9±7.8 and 47.1 ± 5.5%, respectively). Conclusion: The PBLs of EC patients are characterized by increased sensitivity to the genotoxic effect of 4OHE2 and reduced repair efficiency regarding 4OHE2-induced DNA damage. A lower level of DNA repair is observed in EC patients with deep tumor myometrial invasion and a family history of cancer.

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“…Th e second point is that genomic instability has been estimated by using the net frequency of MN as a biomarker of genomic instability. Diff erent biomarkers have been proposed such as the use of the classical chromosomal aberration (Church et al 2012), telomere shortening (Moreno-Palomo et al 2014, Th omay et al 2014 or comet assay (Savina et al 2012); nevertheless, MN has a great biological relevance since it represents fi xed genetic damage resulting from both aneugenic and clastogenic mechanisms (Fenech 2007) and it is considered as a good surrogate marker of cancer risk (Bonassi et al 2011). Th e usefulness of the MN assay to evaluate individual ionizing radiation sensitivity has been reported to determine the intrinsic sensitivity to ionizing radiation in cancer patients, as well as in human immunodefi ciency virus (HIV)-positive individuals (Baeyens et al 2002, Mozdarani et al 2005, Christiakov et al 2008, Vral et al 2011, Bhatia and Kumar 2013.…”

Section: Declaration Of Interestmentioning

confidence: 99%

Radiosensitivity in patients suffering from chronic kidney disease

Rodríguez-Ribera

Corredor

Sandoval

et al. 2014

International Journal of Radiation Biology

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Biomarkers for genome instability in some genetic disorders: a pilot study

Abstract: The results indicate that the estimates of DNA damage response may be proposed as efficient biomarkers for detecting and characterizing genome instability in the genetic disorders under study.

Cited by 4 publications

References 45 publications

Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants

Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants

Sensitivity to 4-Hydroxyestradiol and Dna Repair Efficiency in Peripheral Blood Lymphocytes of Endometrial Cancer Patients

Radiosensitivity in patients suffering from chronic kidney disease

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