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dc.contributorUniversitat Ramon Llull. La Salle
dc.contributorUniversity of Central Florida
dc.contributorIndiana University Robert H. McKinney School of Law
dc.contributorMoSAIC
dc.contributorUniversitat de Barcelona
dc.contributorBarcelona Institute for Science and Technology
dc.contributorUniversitat Pompeu Fabra
dc.contributorCIBERER
dc.contributorICREA
dc.contributorEuropean Molecular Biology Laboratory
dc.contributorIMIM-Hospital del Mar Medical Research Institute
dc.contributorCIBERobn
dc.contributor.authorStarbuck, John M.
dc.contributor.authorLlambrich, Sergi
dc.contributor.authorGonzález, Rubén
dc.contributor.authorAlbaigès, Júlia
dc.contributor.authorSarlé, Anna
dc.contributor.authorWouters, Jens
dc.contributor.authorGonzález Alzate, Alejandro
dc.contributor.authorSevillano Domínguez, Xavier
dc.contributor.authorSharpe, James
dc.contributor.authorTorre, Rafael de la
dc.contributor.authorDierssen, Mara
dc.contributor.authorVande Velde, Greetje
dc.contributor.authorMartínez Abadías, Neus
dc.date.accessioned2021-05-07T04:56:28Z
dc.date.accessioned2023-10-02T06:47:30Z
dc.date.available2021-05-07T04:56:28Z
dc.date.available2023-10-02T06:47:30Z
dc.date.created2020-09
dc.date.issued2021-02
dc.identifier.urihttp://hdl.handle.net/20.500.14342/3476
dc.description.abstractTrisomy of human chromosome 21 (Down syndrome, DS) alters development of multiple organ systems, including the face and underlying skeleton. Besides causing stigmata, these facial dysmorphologies can impair vital functions such as hearing, breathing, mastication, and health. To investigate the therapeutic potential of green tea extracts containing epigallocatechin-3-gallate (GTE-EGCG) for alleviating facial dysmorphologies associated with DS, we performed an experimental study with continued pre- and postnatal treatment with two doses of GTE-EGCG supplementation in a mouse model of DS, and an observational study of children with DS whose parents administered EGCG as a green tea supplement. We evaluated the effect of high (100 mg/kg/day) or low doses (30 mg/kg/day) of GTE-EGCG, administered from embryonic day 9 to post-natal day 29, on the facial skeletal development in the Ts65Dn mouse model. In a cross-sectional observational study, we assessed the facial shape in DS and evaluated the effects of self-medication with green tea extracts in children from 0 to 18 years old. The main outcomes are 3D quantitative morphometric measures of the face, acquired either with micro-computed tomography (animal study) or photogrammetry (human study). The lowest experimentally tested GTE-EGCG dose improved the facial skeleton morphology in a mouse model of DS. In humans, GTE-EGCG supplementation was associated with reduced facial dysmorphology in children with DS when treatment was administered during the first 3 years of life. However, higher GTE-EGCG dosing disrupted normal development and increased facial dysmorphology in both trisomic and euploid mice. We conclude that GTE-EGCG modulates facial development with dose-dependent effects. Considering the potentially detrimental effects observed in mice, the therapeutic relevance of controlled GTE-EGCG administration towards reducing facial dysmorphology in young children with Down syndrome has yet to be confirmed by clinical studies.eng
dc.format.extent13 p.cat
dc.language.isoengcat
dc.publisherNaturecat
dc.relation.ispartofScientific Reports, 2020, Vol. 11cat
dc.rightsAttribution 4.0 International
dc.rights© L'autor/a
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceRECERCAT (Dipòsit de la Recerca de Catalunya)
dc.subject.otherGenètica -- Innovacions tecnològiquescat
dc.subject.otherMalformacions -- Aspectes genèticscat
dc.subject.otherGenètica -- Investigaciócat
dc.titleGreen tea extracts containing epigallocatechin-3-gallate modulate facial development in Down syndromecat
dc.typeinfo:eu-repo/semantics/articlecat
dc.typeinfo:eu-repo/semantics/publishedVersioncat
dc.rights.accessLevelinfo:eu-repo/semantics/openAccess
dc.embargo.termscapcat
dc.subject.udc00
dc.subject.udc61
dc.subject.udc62
dc.identifier.doihttps://doi.org/10.1038/s41598-021-83757-1cat


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