Kyrah Thumbadoo: The X Factor: X-inactivation in the phenotype of the X-linked motor neuron disease gene UBQLN2

UBQLN2 mutations are a rare cause of ALS and FTD, forming ubiquilin-2 aggregates in the brain. Disease severity and onset varies strikingly between males and females which may be due to X-inactivation, random silencing of an X-chromosome in each female cell. This increased diversity may explain disease resilience in females.

This poster was uploaded for the SGS Research Showcase 2023.