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Pathogenesis Research on Trisomy Conditions

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By Victoria Miller Trisomy 18 Foundation
Ting Li, Hanzhi Zhao, Xu Han, Jiaying Yao, Lingling Zhang, Ying Guo, Zhen Shao, Ying Jin, Dongmei Lai
Aneuploidy including trisomy results in developmental disabilities and is the leading cause of miscarriages in humans. Unlike trisomy 21, pathogenic mechanisms of trisomy 18 remain unclear. Here, we successfully generated induced pluripotent stem cells (iPSCs) from human amniotic fluid cells (AFCs) with trisomy 18 pregnancies. We found that trisomy 18 iPSCs (18T-iPSCs) were prone to differentiate spontaneously. Intriguingly, 18T-iPSCs lost their extra 18 chromosomes and converted to diploid cells after 10 generations...
October 26, 2017: Cell Death & Disease
Tegan S Horan, Alyssa Marre, Terry Hassold, Crystal Lawson, Patricia A Hunt
[This corrects the article DOI: 10.1371/journal.pgen.1006885.].
August 2017: PLoS Genetics
Yann Herault, Jean M Delabar, Elizabeth M C Fisher, Victor L J Tybulewicz, Eugene Yu, Veronique Brault
Down syndrome is caused by trisomy of chromosome 21. To date, a multiplicity of mouse models with Down-syndrome-related features has been developed to understand this complex human chromosomal disorder. These mouse models have been important for determining genotype-phenotype relationships and identification of dosage-sensitive genes involved in the pathophysiology of the condition, and in exploring the impact of the additional chromosome on the whole genome. Mouse models of Down syndrome have also been used to test therapeutic strategies...
October 1, 2017: Disease Models & Mechanisms
Ekaterina V Poverennaya, Ekaterina V Ilgisonis, Elena A Ponomarenko, Arthur T Kopylov, Victor G Zgoda, Sergey P Radko, Andrey V Lisitsa, Alexander I Archakov
In this work targeted (selected reaction monitoring, SRM, PASSEL: PASS00697) and panoramic (shotgun LC-MS/MS, PRIDE: PXD00244) mass-spectrometric methods as well as transcriptomic analysis of the same samples using RNA-Seq and PCR methods (SRA experiment IDs: SRX341198, SRX267708, SRX395473, SRX390071) were applied for quantification of chromosome 18 encoded transcripts and proteins in human liver and HepG2 cells. The obtained data was used for the estimation of quantitative mRNA-protein ratios for the 275 genes of the selected chromosome in the selected tissues...
December 1, 2017: Journal of Proteome Research
B Hervé, A Coussement, T Gilbert, F Dumont, S Jacques, L Cuisset, M Chicard, S Hizem, P Bourdoncle, F Letourneur, C Dupont, F Vialard, A Choiset, J-M Dupont
The organization and dynamics of chromatin within the interphase nucleus as chromosome territories (CTs) and the relationship with transcriptional regulation are not fully understood. We studied a natural example of chromosomal disorganization: aneuploidy due to trisomies 13, 18 and 21. We hypothesized that the presence of an extra copy of one chromosome alters the CT distribution, which perturbs transcriptional activity. We used 3D-FISH to study the position of the chromosomes of interest (18 and 21) in cultured amniocytes and chorionic villus cells from pregnancies with a normal or aneuploid karyotype...
July 2016: Clinical Genetics
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies...
2016: PloS One
Antônio Francisco Alves da Silva, Filipe Brum Machado, Érika Cristina Pavarino, Joice Matos Biselli-Périco, Bruna Lancia Zampieri, Ronaldo da Silva Francisco Junior, Pedro Thyago Mozer Rodrigues, Douglas Terra Machado, Cíntia Barros Santos-Rebouças, Maria Gomes Fernandes, Susana Marina Chuva de Sousa Lopes, Álvaro Fabricio Lopes Rios, Enrique Medina-Acosta
The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide transcriptional dysregulation of parental alleles, ultimately causing diverse pathologies. At present, it is unknown whether those effects are dependent or independent of the parental origin of the nondisjoined chromosome 21. Linkage analysis is a standard method for the determination of the parental origin of this aneuploidy, although it is inadequate in cases with deficiency of samples from the progenitors...
2016: PloS One
Carlos Campos, Ángela Casado
Down syndrome (DS) is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Thyroid dysfunction is the most typical endocrine abnormality in patients with DS. It is well known that thyroid dysfunction is highly prevalent in children and adults with DS and that both hypothyroidism and hyperthyroidism are more common in patients with DS than in the general population. Increasing evidence has shown that DS individuals are under unusual increased oxidative stress, which may be involved in the higher prevalence and severity of a number of pathologies associated with the syndrome, as well as the accelerated ageing observed in these individuals...
August 2015: Indian Journal of Medical Research
Shan Yu, Huani Yi, Zhimin Wang, Juan Dong
BACKGROUND: Down syndrome (DS) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Forty to fifty percent of newborns with DS have some form of congenital heart defects (CHD). The genome of CHD in DS has already been obtained, but the underlying genomic or gene expression variation that contributes to the manifestation of a CHD in DS is still unknown. OBJECTIVE: This study was aimed to analyze key genes of patients with CHD in DS...
2015: International Journal of Clinical and Experimental Pathology
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