The Causes and Consequences of Aneuploidy in Eukaryotic Cells

Storchová, Zuzana

doi:10.5772/45781

Cited by 10 publications

(6 citation statements)

References 79 publications

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“…It has been shown that chromosomal nondisjunction occurs with higher frequency in binucleated cells that fail to complete cytokinesis (rather than in cells that have completed cytokinesis), and this mechanism is thought to be a cytokinesis checkpoint for aneuploidy of binucleated cells (). Aneuploidy is found in 75% of hematopoietic malignancies and 90% of solid tumors (). This may contribute to the higher risk of malignancies in SLE, in which the standardized incidence ratios are highest for non‐Hodgkin's lymphoma, Hodgkin's disease, and cervical, bronchial, and breast cancers.…”

Section: Discussionmentioning

confidence: 99%

Brief Report: A Novel Application of Buccal Micronucleus Cytome Assay in Systemic Lupus Erythematosus: A Case–Control Study

Al-Rawi

Gorial

Tawfiq³

et al. 2014

Arthritis & Rheumatology

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Objective. Systemic lupus erythematous (SLE) is a systemic autoimmune disease, and both genetic and environmental factors are implicated in its pathogenesis. The aim of this study was to assess cellular and nuclear morphology of SLE using a buccal micronucleus cytome assay.Methods. This study included 58 SLE patients and 58 healthy age-and sex-matched controls. Patients' baseline characteristics were recorded, and a buccal micronucleus cytome assay was used to measure cellular and nuclear abnormalities in both groups.Results. Significantly higher frequencies of micronuclei, nuclear buds, binucleated cells, basal cells, condensed chromatin cells, karyorrhectic cells, pyknotic cells, and karyolytic cells were seen in SLE patients as compared to controls. A buccal micronucleus cytome assay score of >4 had the highest accuracy (93.1%), almost perfect positive predictive value (98.1% at 50% pretest probability and 99.8% at 90% pretest probability), 87.9% sensitivity, and 98.3% specificity for the diagnosis of SLE.Conclusion. Biomarkers of DNA damage, proliferative potential, and cell death were significantly increased in SLE patients. The buccal micronucleus cytome assay was a valid and easy way for clinicians to assess individuals at high risk of developing SLE.Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a variety of proposed pathogeneses. Apoptosis is one of several important mechanisms involved in the pathogenesis of SLE. A previous study has demonstrated that lymphocyte apoptosis is increased and removal of apoptotic cells is impaired in SLE. Furthermore, apoptosis was found to be higher in active SLE as compared to inactive SLE (1).Several lines of evidence have demonstrated the close relationship between apoptosis and autoantibodies. Delayed clearance of apoptotic residue, such as histone H3, may result in the activation of antigenpresenting cells and the formation of autoantibodies; further, the antigenicity of autoantibodies is mostly against apoptotic cells (2). Studies have linked lymphocyte and leukocyte apoptosis with SLE and titers of autoantibodies (3).The buccal micronucleus cytome assay is a noninvasive method used to study DNA damage, chromosomal instability, cell death, and the regenerative potential of human buccal mucosal tissue (4). To our knowledge, no studies have as yet assessed buccal cell micronuclei in patients with connective tissue diseases or inflammatory arthritis. This study was designed to assess cellular and nuclear morphology in SLE using a buccal micronucleus cytome assay. PATIENTS AND METHODSStudy design. This case-control study was conducted at the Baghdad Teaching Hospital Rheumatology Unit from September 2012 to May 2013. We screened SLE patients who were eligible for inclusion in the study and then compared patients to matched healthy controls; buccal micronucleus cytome biomarkers were measured in both groups. Informed consent was obtained from all participants, and this study was approved by the ethics committee of Baghdad University, College...

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Section: Discussionmentioning

confidence: 99%

Brief Report: A Novel Application of Buccal Micronucleus Cytome Assay in Systemic Lupus Erythematosus: A Case–Control Study

Al-Rawi

Gorial

Tawfiq³

et al. 2014

Arthritis & Rheumatology

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“…Trisomic and monosomic (aneuploid) embryos account for at least 10% of pregnancies and for women at advanced age, the incidence may exceed 50%. [ 3 4 ] It becomes imperative to detect these in cases of assisted reproduction when performed for women in older age group who wish to try their own gametes. There is a degree of mosaicism (90% normal and 10% abnormal), one can expect in embryos which hamper the efficacy and accuracy of PGS.…”

Section: Discussionmentioning

confidence: 99%

Successful birth of South India's first twins after preimplantation genetic screening of embryos

Selvaraj

Srinivasan

et al. 2016

J Hum Reprod Sci

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We report the first documented successful birth of twins following preimplantation genetic screening (PGS) of cleavage stage embryos by array comparative genomic hybridization (CGH) technology, in South India. The case was a 28-year-old woman with the previous history of preclinical pregnancy and a miscarriage in two attempted in vitro fertilization cycles. Day 3 cleavage stage embryos were generated by conventional long protocol with the use of a gonadotropin-releasing hormone analog and a combination of recombinant folliculotropins and human menopausal gonadotropins. Intracytoplasmic sperm injection of oocytes thus obtained was performed, and 10 selected embryos underwent PGS using the array CGH technique. Two normal blastocysts were transferred to the patient, and she conceived twins. She delivered at 35 weeks of gestation by elective cesarean on November 19, 2014. She delivered a healthy male and female baby weighing 2.19 kg and 2.26 kg, respectively. Postnatal evaluation of babies was also normal, and the hospital course was uneventful. PGS has a definitive indication in assisted reproductive technology programs and can be utilized to improve pregnancy rates significantly.

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“…Aneuploidy involving gain or loss of whole chromosomes, at the same time, can result from some gross chromosomal structural abnormalities including deletion, duplication, unbalanced translocation, and overamplification, as described in other sections of this chapter. This type of aberrant ploidy regarding chromosomal parts is termed segmental or structural aneuploidy [151].…”

Section: Numerical Chromosome Abnormalitiesmentioning

confidence: 99%

Acquired Chromosomal Abnormalities and Their Potential Formation Mechanisms in Solid Tumours

Aygün¹

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Solid tumours include numerous malign or relatively less benign types of carcinomas and sarcomas. Acquired chromosomal abnormalities in solid tumours are hallmarks of gene deregulation and genome instability. Chromosomal abnormalities are mainly classified into two groups: structural and numerical alterations. Structural rearrangements involve chromosomal aberrations such as deletion, translocation, duplication, inversion and gene amplification, whereas numerical abnormalities result in aneuploidy or polyploidy. Structural chromosome abnormalities can arise from non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ) and fork stalling and template switching (FoSTeS). Numerical abnormalities can form through various errors in the mitotic spindle checkpoint and some cellular processes during mitosis. This chapter reviews acquired structural and numerical chromosomal abnormalities in solid tumours and presents potential formation mechanisms. In this chapter, the relationship between long inverted repeats (LIRs) and MYCN amplification in neuroblastoma was also investigated. The distribution of LIRs was determined at chromosome 2p25.3-2p24.3, using inverted repeat finder (IRF) software. LIRs were also identified at boundaries of amplicons in 14 neuroblastoma cell lines and 42 solid tumours, involving MYCN amplification. Statistical analysis showed a significant association between LIRs and MYCN amplification loci. Present data provide important insights into MYCN amplification mechanism. Therefore, a new model mechanism for formation of the MYCN amplification is proposed at the end of the chapter.

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The Causes and Consequences of Aneuploidy in Eukaryotic Cells

Cited by 10 publications

References 79 publications

Brief Report: A Novel Application of Buccal Micronucleus Cytome Assay in Systemic Lupus Erythematosus: A Case–Control Study

Brief Report: A Novel Application of Buccal Micronucleus Cytome Assay in Systemic Lupus Erythematosus: A Case–Control Study

Successful birth of South India's first twins after preimplantation genetic screening of embryos

Acquired Chromosomal Abnormalities and Their Potential Formation Mechanisms in Solid Tumours

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