Mosaic results after preimplantation genetic testing for aneuploidy may be accompanied by changes in global gene expression.

Fecha de publicación: 14/04/2023 Fecha Ahead of Print: 14/04/2023

Autores de IIS La Fe

Ángel Martín Bastida

Autor
María Desamparados Mercader Bayarri

Autor
Francisco Domínguez Hernández

Autor
Alicia Quiñonero Villora

Autor
Roberto González Martín

Autor
Antonio Pellicer Martínez

Autor

Participantes ajenos a IIS La Fe

Perez, M.
Delgado, A.
Mifsud, A.
de los Santos, M. J.

Grupos

Biología Reproductiva y Bioingeniería en Reproducción Humana

Leader

Nicolás Garrido Puchalt
Biomarcadores, Medicina Genómica, Estadística y Análisis masivo de datos en Reproducción humana asistida

Investigador Principal

Marcos Meseguer Escrivá
Medicina Reproductiva

Investigador Principal

José Morales Roselló

Abstract

Aneuploidy in preimplantation embryos is a major cause of human reproductive failure. Unlike uniformly aneuploid embryos, embryos diagnosed as diploid-aneuploid mosaics after preimplantation genetic testing for aneuploidy (PGT-A) can develop into healthy infants. However, the reason why these embryos achieve full reproductive competence needs further research. Current RNA sequencing techniques allow for the investigation of the human preimplantation transcriptome, providing new insights into the molecular mechanisms of embryo development. In this prospective study, using euploid embryo gene expression as a control, we compared the transcriptome profiles of inner cell mass and trophectoderm samples from blastocysts with different levels of chromosomal mosaicism. A total of 25 samples were analyzed from 14 blastocysts with previous PGT-A diagnosis, including five low-level mosaic embryos and four high-level mosaic embryos. Global gene expression profiles visualized in cluster heatmaps were correlated with the original PGT-A diagnosis. In addition, gene expression distance based on the number of differentially expressed genes increased with the mosaic level, compared to euploid controls. Pathways involving apoptosis, mitosis, protein degradation, metabolism, and mitochondrial energy production were among the most deregulated within mosaic embryos. Retrospective analysis of the duration of blastomere cell cycles in mosaic embryos revealed several mitotic delays compared to euploid controls, providing additional evidence of the mosaic status. Overall, these findings suggest that embryos with mosaic results are not simply a misdiagnosis by-product, but may also have a genuine molecular identity that is compatible with their reproductive potential.

Datos de la publicación

ISSN/ISSNe:: 2296-889X, 2296-889X
Tipo:: Article
Páginas:: 1180689-1180689
DOI:: 10.3389/fmolb.2023.1180689
Factor de Impacto:: 1,415 SCImago ℠
Cuartil:: Q1 SCImago ℠

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Filiaciones

Martin, A.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain
Mercader, A.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain

IVI RMA Valencia, Valencia, Spain
Dominguez, F.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain
Quinonero, A.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain
Perez, M.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain
Gonzalez-Martin, R.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain
Delgado, A.:: IVI RMA Valencia, Valencia, Spain
Mifsud, A.:: IVI RMA Valencia, Valencia, Spain
Pellicer, A.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain

IVI RMA Rome, Rome, Italy
de los Santos, M. J.:: Instituto de Investigación. IVI RMA Fdn, Hlth Res Inst La Fe, Valencia, Spain

IVI RMA Valencia, Valencia, Spain