Quantitative proteomics suggest a potential link between early embryonic death and trisomy 16

Area of Science:

• Reproductive Biology
• Genetics
• Proteomics

Background:

• Early embryonic death (EED) is associated with fetal trisomy 16, altered uterine environment, and reduced human chorionic gonadotropin.
• The precise biological mechanisms driving EED remain incompletely understood.

Purpose of the Study:

• To identify differentially expressed proteins in villous tissues from EED with trisomy 16 (EEDT16), EED with normal chromosomes (EEDNC), and normal elective abortion (EANC) groups.
• To elucidate the molecular mechanisms underlying EED, particularly focusing on immune and implantation-related pathways.

Main Methods:

• Quantitative proteomics was employed to screen villous tissues from EEDT16, EEDNC, and EANC patient groups.
• Differential protein expression analysis was performed to compare the groups.

Main Results:

• 337 and 220 differentially expressed proteins were identified in EEDT16 and EEDNC patients, respectively, compared to controls.
• Key proteins involved in immune response (e.g., HLA-G, IL-18, TGF-β1) and implantation/invasion (e.g., CYBA, MMP2, MMP9, TNF-α) showed differential expression in both EED groups.
• EEDT16 patients exhibited more severe immunological dysfunction and impaired implantation/invasion abilities compared to EEDNC patients.

Conclusions:

• Aberrant expression of immune-related molecules (e.g., HLA-G, IL-18) and implantation/invasion factors (e.g., MMPs, TNF-α) contributes to EED in both trisomy 16 and chromosomally normal cases.
• Fetal trisomy 16 exacerbates immunological dysfunction and implantation defects, leading to more severe EED.