Evidence map›Paper›PMID 41870862›Full record

ArticleReproductive sciences (Thousand Oaks, Calif.)2026

Abnormal Endocytosis Resulting from Imbalanced Proteomic Doses in Human Aneuploid Embryos.

Rubing Duan, Xiaodong Liang, Ying Yang, Jianghua Guo

Abstract read
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Article in Reproductive sciences (Thousand Oaks, Calif.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

4 authors.

Rubing DuanJiangmen Central Hospital Reproductive Medicine Department, Jiangmen Guangdong, China. 1754930016@qq.com.ORCID http://orcid.org/0000-0003-3897-943X
Xiaodong LiangJiangmen Central Hospital Reproductive Medicine Department, Jiangmen Guangdong, China.
Ying YangJiangmen Central Hospital Reproductive Medicine Department, Jiangmen Guangdong, China.
Jianghua GuoJiangmen Central Hospital Reproductive Medicine Department, Jiangmen Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo explore transcriptome differences between diploid and aneuploidy embryos, identify non-invasive screening targets for aneuploidy embryos, and establish a theoretical basis for a pathogenic model.

methodRNA sequencing compared transcriptomes of diploid and aneuploid blastocysts, with GO and pathway analysis on differentially expressed genes. Fluorescent probes assessed clathrin-dependent and independent endocytosis in both cell types, while fluorescence quantitative PCR validated endocytosis abnormalities in early aneuploidy development. Additionally, free amino acid content was compared to show how aneuploidy genome imbalance affects endocytosis via changes in osmotic pressure.

resultRNA sequencing revealed 9731 differentially expressed genes between normal diploids and aneuploidys, with 6134 up-regulated and 3597 down-regulated. KEGG analysis indicated these genes are mainly involved in endocytosis-related pathways. Six genes (PSD3, ARAP2, SMAP2, CBLC, AGAP1, SH3GLB1) showed significant differences (P < 0.05) in expression between diploid and aneuploidy groups. Molecular probe analysis and Fluorescence quantitative PCR resultsrevealed reduced clathrin-dependent endocytosis and increased clathrin-independent endocytosis in aneuploidy embryos compared to normal diploids(P < 0.05). Additionally, aneuploid embryos showed higher relative abundance of 14 free amino acids, particularly methionine.

conclusionThe study concludes that early transcriptome differences in aneuploid embryos are centered on endocytosis. Normal diploid embryos primarily use clathrin-dependent pathways, whereas aneuploid embryos favor clathrin-independent pathways. The endocytosis abnormalities in aneuploid cells are due to changes in intracellular osmotic pressure. This study provides a potential target for non-invasive detection of aneuploid embryos and lays a theoretical foundation for the establishment of a pathogenicity prediction model for aneuploid embryos.

Indexed as

AneuploidyBlastocystEndocytosisProteomicsTranscriptomeDiploidyHumansAneuploidyEndocytosisGO functional enrichment analysisIntracellular free amino acid detectionPathway analysisPGT-ARNA seqTranscriptomics

Identifiers

PMID41870862
PMCPMC13179247

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