Latest Publication Publication Update on GJC2 Mutations and Brain Disorders

Our latest study, conducted in collaboration with Dr. Charles K. Abrams, his PhD student David Gong, and colleagues at the College of Medicine, University of Illinois Chicago, explores the effects of two GJC2 mutations—p.G40S and p.R244P—linked to rare neurological disorders such as PMLD1, SPG44, and mild leukodystrophy.

GJC2 encodes connexin 47 (Cx47), a gap junction protein critical for communication between oligodendrocytes. Using in vitro assays and molecular dynamics simulations, we show how these mutations impair gap junction formation and function, offering structural insights into their pathogenic mechanisms.

This work provides a deeper understanding of GJC2-related disorders and potential directions for therapeutic intervention.

Paper Link: CLICK HERE