28-11-2025
Carlota Ferreira defended her master’s thesis today, titled "Imaging Lamin A/C and Laminopathy-Linked Mutations: A Multi-Parameter Analysis of Nuclear Shape, Protein Localization, and Therapeutic Response".This work, carried out at Brunel University and at the DCV Human Genetics and Cancer Therapeutics Lab, investigated how mutations in the LMNA gene affect the shape and internal organization of the cell nucleus. The study compared cells from patients with Hutchinson-Gilford Progeria Syndrome (HGPS) with engineered cell models to assess changes in chromatin organization and nuclear structure. It also tested three treatments—FTI-277, rapamycin, and a combination of both—to evaluate their ability to improve or reverse nuclear defects.
The findings showed that LMNA mutations lead to misshapen nuclei and reduced levels of key structural proteins, mirroring what is observed in HGPS patient cells. Lowering lamin A/C levels produced similar abnormalities, reinforcing its essential role in maintaining nuclear integrity. The tested treatments resulted in partial recovery of normal nuclear organization. Overall, this study deepens our understanding of how LMNA mutations disrupt cell structure and highlights promising avenues for future therapeutic strategies in laminopathies.
Congratulations, Carlota!
