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Pathogenesis Research on Trisomy Conditions

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5 papers 0 to 25 followers Research related to exploring Pathogenesis of Trisomy 18. Differential expression identifying key molecular pathways.
By Victoria Miller Trisomy 18 Foundation
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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