Single-cell transcriptomic analysis of peripheral blood mononuclear cells (PBMCs) from autism patients before and after metabolic stimulation with long-term L-serine treatment

ASD patients who were assessed using the ADI-R (Autism Diagnostic Interview-Revised) showed improvements in the Clinical Global Impression (CGI) after oral medication of L-serine. We analyzed single-cell transcriptome changes in PBMCs obtained from two ASD patients (both male, 3 and 4 years old) and compared the transcriptomic features with those of the same patients after treatment with L-serine (400 mg) for 12 weeks. The transcriptional profiles of PBMCs from autism patients showed a large portion of immature CD4 T cells were partially caused by an atypical developmental trajectory. Treatment with L-serine for 12 weeks at a 400 mg dose significantly reduced atypical naive CD4 T cells and drastically restored the transcriptome features of biosynthetic processes involved in normal development of CD4 T cells. This study illustrates that the transcriptomic signatures of CD4 T cells have prognostic values of ASD and metabolic reprogramming of adaptive immune cells may restore immune development and delay ASD progression. Single-cell mRNA sequencing of peripheral blood mononuclear cells (PBMCs) using the inDrop (v2) platform Supplementary file 1 : single cell mRNA sequencing libraries of PBMCs from 2 donor before oral-medication of L-serine Supplementary file 2 : single cell mRNA sequencing libraries of PBMCs from 2 donor after oral-medication of L-serine (400mg/day, 2 weeks)