ESPE Abstracts

Background: Turner Syndrome (TS) is determine by karyotype analysis marked by loss or partial loss of one X chromosome in female. Apart from the distinctive physical traits such as short stature, sexual infantilism, and low-set ears, TS patients are more susceptible to shorter life expectancy as well as various endocrine disease including autoimmune disease. Previous studies have suggested that X chromosome count variation may play a role in genetic expression and epigenetic changes, influencing autoimmunity of the individuals. CD4+ T cell is essential in immune responses and yet, the genes involved in autoimmunity in patients with TS is unclear. Thus, this study aims to analyze the differences in gene expression between patients with TS (45 X), healthy female (46 XX), and female with Graves’ disease (46 XX) using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4+ T cells.

Methods: We conducted CD4+ T cells gaited scRNA-seq of peripheral blood mononuclear cell (PMBC) samples collected from one healthy female (46 XX) volunteer, one patient diagnosed with Turner syndrome (45 X), and one patient diagnosed with Grave’s disease (46 XX). Gene expression patterns were analyzed between the subjects.

Results: Among the total 28,175 identified genes, 718 genes were differentially expressed between TS and healthy female. 1,574 genes were found to be differentially expressed genes between TS and patient with Graves’ disease. Moreover, we identified 43 overlapping genes in TS compared with healthy female and patient with Graves’ disease, of which 30 were up-regulated and 13 were down-regulated. XIST, previously known to initiate X chromosome inactivation to balance the X chromosome related gene expression was significantly down-regulated in TS. Of the 30 up-regulated genes in TS, 14 genes (ABO, GNLY, GZMB, GZMK, GZMA, MYOM2, FGFBP2, CCL5, CEBPD, CTS7, PZP, A2M, HPGD, PPP2R2B) have previously been suggested to take part in immunity from previous studies.

Conclusion: These results could aid in understanding the differences in gene related to immune system of TS in comparison to healthy peers or those with autoimmune diseases