{"database":"biostudies-arrayexpress","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown","Transcriptomics","Genomics","Proteomics"],"submitter":["MARIA VICTORIA LLULL ALBERTI"],"study_type":["transcription profiling by array"],"organism":["Mus musculus"],"species":["Mus musculus"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/E-MTAB-15455"],"description":["Congenital heart defects (CHDs) occur in 50-75% of patients with 22q11.2 deletion syndrome (22q11.2DS), ranging from mild to severe manifestations. The genetic and environmental factors contributing to variable CHD phenotypes in 22q11.2DS are largely unknown. In this study, we used a mouse model of 22q11.2DS, termed Df1/+, to evaluate the effect of maternal vitamin A (VitA) dietary imbalance (supplementation or deficiency) on the incidence of aortic arch defects (AADs), which is a common type of CHD observed in both 22q11.2DS patients and Df1/+ mouse embryos.  While most groups showed a previously observed 30% AAD incidence, only two groups exhibited significantly higher rates: (1) Df1/+ embryos from WT mothers on a VitA-Sup diet (51% AADs) and (2) Df1/+ embryos from Df1/+ mothers on a VitA-Def diet (45% AADs). Thus, a low or high maternal VitA diet can increase the frequency of AADs in embryos depending on the maternal genotype. Transcriptomic analysis of the hearts of these high risk embryos at embryonic day (E)18.5 revealed downregulation of key genes (Hdac3, Ptgds, Sirt5, Pfkm and Lclat1) associated with energy metabolism pathways, such as oxidative phosporylation and glycolysis, suggesting impaired cardiac recovery mechanisms. In conclusion, our findings demonstrate that altered VitA exposure can exacerbate AADs incidence in a maternal-genotype-dependent manner, highlighting the complex interplay between embryonic and maternal genetic background and environmental factors in CHDs associated with 22q11.2DS."],"repository":["biostudies-arrayexpress"],"sample_protocol":["Nucleic Acid Extraction - RNA was isolated from paraffin-embedded hearts from E18.5 embryos and a fragment of the aortic arch using the Recover AllTM Total Nucleic Acid Isolation Kit (Ambion/RNA by Life technologies), following manufacturer’s protocol.","Sample Collection - Pregnant females were sacrificed on E18.5 by CO2 exposure. E18.5 embryos were isolated from uterus and extra-embryonic membranes and fixed using a 24-hour protocol with PBS-buffered 4% paraformaldehyde. Following fixation, embryos were kept in 70% ethanol and phenotyped by direct observation under the stereo microscope. Then, embryonic fixed hearts were collected, dehydrated, embedded in paraffin.","Labeling - Single-stranded cDNA was generated from the amplified cRNA, and also fragmented and labeled with the GeneChip WT Pico Reagent Kit (Affymetrix, Thermo Fisher Scientific).","Hybridization - Samples were hybridized with GeneChip Mouse Clariom D Arrays (Affymetrix, Thermo Fisher Scientific) and scanned at the IdISBa Genomic Core Facility.","Scaning - Array scanning was performed by using the GeneChip Scanner 3000 7G according to the manufacturer's instruction (Affymetrix, Thermo Fisher Scientific)."],"figure_sub":["MIAME Score","Raw Data","Organization","Assays and Data","MAGE-TAB Files","Array Designs"],"pubmed_authors":["MARIA VICTORIA LLULL ALBERTI"],"additional_accession":[]},"is_claimable":false,"name":"Arrays of 22q11.2 deleted embryo mice from mothers fed with supplemented or control or deficient vitamin A diets","description":"Congenital heart defects (CHDs) occur in 50-75% of patients with 22q11.2 deletion syndrome (22q11.2DS), ranging from mild to severe manifestations. The genetic and environmental factors contributing to variable CHD phenotypes in 22q11.2DS are largely unknown. In this study, we used a mouse model of 22q11.2DS, termed Df1/+, to evaluate the effect of maternal vitamin A (VitA) dietary imbalance (supplementation or deficiency) on the incidence of aortic arch defects (AADs), which is a common type of CHD observed in both 22q11.2DS patients and Df1/+ mouse embryos.  While most groups showed a previously observed 30% AAD incidence, only two groups exhibited significantly higher rates: (1) Df1/+ embryos from WT mothers on a VitA-Sup diet (51% AADs) and (2) Df1/+ embryos from Df1/+ mothers on a VitA-Def diet (45% AADs). Thus, a low or high maternal VitA diet can increase the frequency of AADs in embryos depending on the maternal genotype. Transcriptomic analysis of the hearts of these high risk embryos at embryonic day (E)18.5 revealed downregulation of key genes (Hdac3, Ptgds, Sirt5, Pfkm and Lclat1) associated with energy metabolism pathways, such as oxidative phosporylation and glycolysis, suggesting impaired cardiac recovery mechanisms. In conclusion, our findings demonstrate that altered VitA exposure can exacerbate AADs incidence in a maternal-genotype-dependent manner, highlighting the complex interplay between embryonic and maternal genetic background and environmental factors in CHDs associated with 22q11.2DS.","dates":{"release":"2025-08-11T00:00:00Z","modification":"2025-08-06T12:55:55.496Z","creation":"2025-08-06T12:55:55.496Z"},"accession":"E-MTAB-15455","cross_references":{"EFO":["EFO_0002768","EFO_0002944","EFO_0003814","EFO_0003813","EFO_0005518","EFO_0003815"]}}