Sex Differences in Protein Expression and Their Perturbations in Amniotic Fluid Cells of Down Syndrome Fetuses

Down syndrome (DS) is the most common chromosomal condition associated with intellectual disability and is characterized by a variety of additional clinical findings. The pathogenesis of DS and the differences between the sexes are not clear. In order to identify differentially expressed proteins that might be employed as potential biological markers and elucidate the difference in pathogenesis between different genders of T21 fetuses, providing clues for individualized detection and treatment is essential. Amniocyte samples of T21 males, T21 females, CN males, and CN females were collected by amniocentesis. The quantitative value of the peptide corresponding to each sample was determined through quantitative analysis by mass spectrometry. We identified many differentially expressed proteins between T21 fetuses and CN fetuses/T21 males and CN males/T21 females and CN females/and T21 males and T21 females. These differential proteins are associated with many important biological processes and affect the development of multiple systems, including the heart, hematopoietic, immune, reproductive, and nervous systems. Our results show sex-specific modulation of protein expression and biological processes and provide new insights into sex-specific differences in the pathogenesis of DS.

Automated summary

This study revealed differences in protein expression and biological processes between genders in individuals with Down syndrome, providing insights for personalized detection and treatment.