As 2023 wrapped up, so did the first Project 8p-Sponsored Research Project. The project, which was led by Dr. Nicoleta Moisoi at De Montfort University, and carried out by post-doctoral researcher Dr. Marta Domínguez-Prieto, began in July 2022, when we sent 4 fibroblast cell lines from 8p heroes across the pond to their lab in the UK.
Mitochondrial dysfunction is a hallmark of neurodegenerative disease and we sought to understand if this is also the case in Chromosome 8p disorders. Fibroblasts are a good model system for studying cellular physiology because metabolic changes observed in neurons are often preserved in fibroblasts, yet they are easier and more cost-effective to work with than neurons (Olesen et al. 2022, Cordone et al. 2020). The first phase of the project focused on phenotyping mitochondrial function and cellular features of the fibroblasts. The experiments showed that 8p cells exhibit differences in mitochondrial resting membrane potential, lysosomal staining, staining of the plasma membrane and ER membrane, and cellular senescence. You can read more about those results on the Chromo 8p Substack. Further work will be necessary to understand how these changes may contribute to disease pathology, but in the meantime, we can take advantage of these differences to screen for drug candidates capable of correcting the morphological phenotypes of 8p cells such that they look more like the control cells.