Genetics

This article explores recent advances in understanding the genetic architecture of familial multiple sclerosis through whole-exome sequencing and molecular modeling. Focusing on the identification of copy number variants in the BTNL3 and BTNL8 genes and the resulting BTNL8*3 fusion protein, the study reveals how disrupted γδ T-cell regulation may contribute to neuroinflammation and disease progression. Additionally, the role of a rare MBL2 variant as a potential genetic modifier is examined, highlighting the complexity and heterogeneity of MS pathogenesis. Together, these findings provide new perspectives on immune-mediated mechanisms and open avenues for targeted research and therapeutic development.