CYCLIN B1 EXPRESSION IN MOTHERS OF DOWN SYNDROME VERSUS EUPLOID CHILDREN
Abstract
Introduction. Down Syndrome (DS) is the most common chromosomopathy. Cyclin B1 is a regulatory protein involved in mitosis. The aim was to determine the cyclin B1 relative expression in mothers of DS patients. Methods. In this cross-sectional study, mononuclear cells of peripheral blood were obtained from 40 mothers of confirmed DS patients and 40 mothers of euploid patients, between 2019-2021. Demographic variables and cyclin B1 messenger RNA (mRNA) with real-time polymerase chain reaction (qPCR) were analyzed. The cases of DS mothers were compared to the relative expression of euploid group. Results. cyclin B1 mean relative expression by RT-PCR showed a significant difference between the group of mothers of DS children and mothers of euploid children (p < 0.05). The expression of the cyclin B1 was lower than the mean of mothers with euploid patients. Previously, it has been reported that the cyclin B1 down expression should accelerate telomere shortening in DS patients. Therefore, it would be advisable to recategorize the maternal age-related risk factor. Conclusion. Cyclin B1 may be a cost-effective biomarker in reproductive age women to present a DS case not associated with chronological age.
Keywords:
About the Authors
List of references
Dementia and mortality in persons with Down’s syndrome - Coppus - 2006 - Journal of Intellectual Disability Research - Wiley Online Library n.d. https://onlinelibrary. wiley.com/doi/abs/10.1111/j.1365-2788.2006.00842.x (accessed March 25, 2024).
Corona-Rivera JR, Martínez-Macías FJ, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Rios-Flores IM, et al. Prevalence and risk factors for Down syndrome: A hospital-based single-center study in Western Mexico. Am J Med Genet A 2019;179:435–41.https://doi.org/10.1002/ajmg.a.61044.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C. Mosaicism for trisomy 21: a review. Am J Med Genet A 2015;167A:26–39. https://doi.org/10.1002/ajmg.a.36861.
Meharena HS, Marco A, Dileep V, Lockshin ER, Akatsu GY, Mullahoo J, et al. Down-syndrome-induced senescence disrupts the nuclear architecture of neural progenitors. Cell Stem Cell 2022;29:116-130.e7. https://doi.org/10.1016/j.stem.2021.12.002.
Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL. Association between telomere length and chromosome 21 nondisjunction in the oocyte. Hum Genet 2015;134:1263–70. https://doi.org/10.1007/s00439-015-1603-0.
Polański Z, Homer H, Kubiak JZ. Cyclin B in mouse oocytes and embryos: importance for human reproduction and aneuploidy. Results Probl Cell Differ 2012;55:69–91. https://doi.org/10.1007/978-3-642-30406-4_4.
Smith I, Calegari F. Cyclin D1 Again Caught in the Act: Dyrk1a Links G1 and Neurogenesis in Down Syndrome. EBioMedicine 2015;2:96–7. https://doi.org/10.1016/j.ebiom.2015.02.003.
Najas S, Arranz J, Lochhead PA, Ashford AL, Oxley D, Delabar JM, et al. DYRK1A-mediated Cyclin D1 Degradation in Neural Stem Cells Contributes to the Neurogenic Cortical Defects in Down Syndrome. eBioMedicine 2015;2:120–34. https://doi.org/10.1016/j.ebiom.2015.01.010.
García-Cerro S, Martínez P, Vidal V, Corrales A, Flórez J, Vidal R, et al. Overexpression of Dyrk1A is implicated in several cognitive, electrophysiological and neuromorphological alterations found in a mouse model of Down syndrome. PloS One 2014;9:e106572. https://doi.org/10.1371/journal.pone.0106572.
Contestabile A, Fila T, Bartesaghi R, Ciani E. Cell cycle elongation impairs proliferation of cerebellar granule cell precursors in the Ts65Dn mouse, an animal model for Down syndrome. Brain Pathol Zurich Switz 2009;19:224–37. https://doi.org/10.1111/j.1750-3639.2008.00168.x.
Kuhn DE, Nuovo GJ, Martin MM, Malana GE, Pleister AP, Jiang J, et al. Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts. Biochem Biophys Res Commun 2008;370:473–7. https://doi.org/10.1016/j.bbrc.2008.03.120.
Thompson JA. Disentangling the roles of maternal and paternal age on birth prevalence of down syndrome and other chromosomal disorders using a Bayesian modeling approach. BMC Med Res Methodol 2019;19:82. https://doi.org/10.1186/s12874-019-0720-1.
Zhang L, Meng K, Jiang X, Liu C, Pao A, Belichenko PV, et al. Human chromosome 21 orthologous region on mouse chromosome 17 is a major determinant of Down syndrome-related developmental cognitive deficits. Hum Mol Genet 2014;23:578–89. https://doi.org/10.1093/hmg/ddt446.
Korbel JO, Tirosh-Wagner T, Urban AE, Chen X-N, Kasowski M, Dai L, et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A 2009;106:12031–6. https://doi.org/10.1073/pnas.0813248106.
Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, et al. Genotypephenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet EJHG 2009;17:454–66. https://doi.org/10.1038/ejhg.2008.214.
Ghosh S, Feingold E, Chakraborty S, Dey SK. Telomere length is associated with types of chromosome 21 nondisjunction: a new insight into the maternal age effect on Down syndrome birth. Hum Genet 2010;127:403–9. https://doi.org/10.1007/s00439-009-0785-8.
Branchi I, Bichler Z, Minghetti L, Delabar JM, Malchiodi-Albedi F, Gonzalez M-C, et al. Transgenic mouse in vivo library of human Down syndrome critical region 1: association between DYRK1A overexpression, brain development abnormalities, and cell cycle protein alteration. J Neuropathol Exp Neurol 2004;63:429–40. https://doi. International Journal of Scientific Pediatrics www.ijsp.uz 484published: 29 February 2024 volume 3 | Issue 2 | February 2024org/10.1093/jnen/63.5.429.
Sanchez-Mut JV, Huertas D, Esteller M. Aberrant epigenetic landscape in intellectual disability. Prog Brain Res 2012;197:53–71.https://doi.org/10.1016/B978-0-444-54299-1.00004-2.
Dekker AD, De Deyn PP, Rots MG. Epigenetics: the neglected key to minimize learning and memory deficits in Down syndrome. Neurosci Biobehav Rev 2014;45:72–84. https://doi.org/10.1016/j.neubiorev.2014.05.004.
De la Torre R, De Sola S, Pons M, Duchon A, de Lagran MM, Farré M, et al. Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans. Mol Nutr Food Res 2014;58:278–88. https://doi.org/10.1002/mnfr.201300325.
How to Cite
Copyright (c) 2024 International Journal of Scientific Pediatrics
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.