Researchers Find Association Between Dysregulation of Three Genes and MS

New research published in the Annals of Clinical and Translational Neurology has identified dysregulation in three specific genes along with their expressed proteins that may be associated with multiple sclerosis (MS). The three genes were SHMT1, FAM120B, and ICA1L.

As part of the study, researchers used a 2-stage proteome-wide association study that combined data from proteins found in certain brain cells (proteomes from the dorsolateral prefrontal cortex) with MS-specific genome-wide association study data from 41,505 individuals. Then, researchers performed a colocalization analysis to identify potential gene candidates followed by a differential expression analysis to identify dysregulation of genes in white and gray matter for evidence at the transcription level. 

Results from the differential expression analysis revealed dysregulation at the transcription level of SHMT1 and FAM120B in white matter and ICA1L in gray matter. Additional results showed upregulation of SHMT1 in white matter lesion, upregulation of FAM120B in white matter lesion and normal-appearing white matter, and downregulation of ICA1L in gray matter lesion and normal-appearing gray matter. 

“Our findings shed new light on the pathogenesis of MS and prioritized promising targets for future therapy research,” according to one of the investigators, Tingting Jia from Sichuan University, China.