2658-6533Research Results in Biomedicine2658-653310.18413/2313-8955-2018-4-2-0-21416GeneticsBIOMARKERS FOR CHILDHOOD NONMALIGNANT BRAIN DISEASES ASSOCAITED WITH CHROMOSOME INSTABILITYBIOMARKERS FOR CHILDHOOD NONMALIGNANT BRAIN DISEASES ASSOCAITED WITH CHROMOSOME INSTABILITYVorsanovaSvetlana G.VorsanovaSvetlana G.svorsanova@mail.ruYurovYuri B.YurovYuri B.DemidovaIrina A.DemidovaIrina A.demidovaia@yandex.ruKolotiyAlexey D.KolotiyAlexey D.kolotiyad@yandex.ruKurinnayaOksana S.KurinnayaOksana S.KravetsVictor S.KravetsVictor S.victorskravets@mail.ruIourovIvan Y.IourovIvan Y.ivan.iourov@gmail.com20184200

Background. Over the past ten years, there has been provided a sufficient amount of data demonstrating that chromosome instability is not limited to being a molecular and cellular mechanism for oncologic diseases but may be also a cause of childhood brain diseases. The aim of the study. Thus, the study is aimed at the evaluation of chromosome instability occurrence in children with neuropsychiatric diseases for understanding the mechanism and for developing diagnostic tactics to uncover genomic variations causative for chromosome instability. Materials and methods. The article presents the cytogenetic, molecular cytogenetic and bioinformatics studies of 1000 children with intellectual disability, autism, epilepsy, and/or congenital malformations for uncovering molecular (cellular) mechanisms of the disease. Results. Chromosome instability is found to occur in 10.8% of children with the aforementioned diseases. Bioinformatics analysis has highlighted genomic alterations to genome stability maintenance, DNA reparation/replication, cell cycle, and programmed cell death pathways as a cause of this type of chromosomal pathology. Conclusion. Our data suggest that chromosome instability is a biomarker for nonmalignant brain diseases in children. Moreover, we propose an algorithm for identification of molecular and cellular mechanisms of childhood brain diseases resulted from chromosome instability.

Background. Over the past ten years, there has been provided a sufficient amount of data demonstrating that chromosome instability is not limited to being a molecular and cellular mechanism for oncologic diseases but may be also a cause of childhood brain diseases. The aim of the study. Thus, the study is aimed at the evaluation of chromosome instability occurrence in children with neuropsychiatric diseases for understanding the mechanism and for developing diagnostic tactics to uncover genomic variations causative for chromosome instability. Materials and methods. The article presents the cytogenetic, molecular cytogenetic and bioinformatics studies of 1000 children with intellectual disability, autism, epilepsy, and/or congenital malformations for uncovering molecular (cellular) mechanisms of the disease. Results. Chromosome instability is found to occur in 10.8% of children with the aforementioned diseases. Bioinformatics analysis has highlighted genomic alterations to genome stability maintenance, DNA reparation/replication, cell cycle, and programmed cell death pathways as a cause of this type of chromosomal pathology. Conclusion. Our data suggest that chromosome instability is a biomarker for nonmalignant brain diseases in children. Moreover, we propose an algorithm for identification of molecular and cellular mechanisms of childhood brain diseases resulted from chromosome instability.

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