DNA Hydroxymethylation Levels Are Altered in Blood Cells From Down Syndrome Persons Enrolled in the MARK-AGE Project
DNA Hydroxymethylation Levels Are Altered in Blood Cells From Down Syndrome Persons Enrolled in the MARK-AGE Project
Date
2018
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Ciccarone, Fabio
Valentini, Elisabetta
Malavolta, Marco
Zampieri, Michele
Bacalini, Maria Giulia
Calabrese, Roberta
Guastafierro, Tiziana
Reale, Anna
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The Journals of Gerontology / Series A: Biological Sciences and Medical Sciences ; 73 (2018), 6. - pp. 737-744. - ISSN 1079-5006. - eISSN 1758-535X
Abstract
Down syndrome (DS) is caused by the presence of part or an entire extra copy of chromosome 21, a phenomenon that can cause a wide spectrum of clinically defined phenotypes of the disease. Most of the clinical signs of DS are typical of the aging process including dysregulation of immune system. Beyond the causative genetic defect, DS persons display epigenetic alterations, particularly aberrant DNA methylation patterns that can contribute to the heterogeneity of the disease. In the present work, we investigated the levels of 5-hydroxymethylcytosine and of the Ten-eleven translocation dioxygenase enzymes, which are involved in DNA demethylation processes and are often deregulated in pathological conditions as well as in aging. Analyses were carried out on peripheral blood mononuclear cells of DS volunteers enrolled in the context of the MARK-AGE study, a large-scale cross-sectional population study with subjects representing the general population in eight European countries. We observed a decrease in 5-hydroxymethylcytosine, TET1, and other components of the DNA methylation/demethylation machinery in DS subjects, indicating that aberrant DNA methylation patterns in DS, which may have consequences on the transcriptional status of immune cells, may be due to a global disturbance of methylation control in DS.
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CICCARONE, Fabio, Elisabetta VALENTINI, Marco MALAVOLTA, Michele ZAMPIERI, Maria Giulia BACALINI, Roberta CALABRESE, Tiziana GUASTAFIERRO, Anna REALE, Maria MORENO-VILLANUEVA, Alexander BÜRKLE, 2018. DNA Hydroxymethylation Levels Are Altered in Blood Cells From Down Syndrome Persons Enrolled in the MARK-AGE Project. In: The Journals of Gerontology / Series A: Biological Sciences and Medical Sciences. 73(6), pp. 737-744. ISSN 1079-5006. eISSN 1758-535X. Available under: doi: 10.1093/gerona/glx198BibTex
@article{Ciccarone2018-05-09Hydro-44721, year={2018}, doi={10.1093/gerona/glx198}, title={DNA Hydroxymethylation Levels Are Altered in Blood Cells From Down Syndrome Persons Enrolled in the MARK-AGE Project}, number={6}, volume={73}, issn={1079-5006}, journal={The Journals of Gerontology / Series A: Biological Sciences and Medical Sciences}, pages={737--744}, author={Ciccarone, Fabio and Valentini, Elisabetta and Malavolta, Marco and Zampieri, Michele and Bacalini, Maria Giulia and Calabrese, Roberta and Guastafierro, Tiziana and Reale, Anna and Moreno-Villanueva, Maria and Bürkle, Alexander} }
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