Exploring the toxic effects of the Optineurin E50K mutation on mitochondrial expression in retinal ganglion cells

Many of the underlying mechanisms of neuron degeneration are highly conserved throughout neurodegenerative diseases. To further understand neurodegeneration, human pluripotent stem cells are differentiated into neurons, and these neurons are used as models. One of the ways in which these neuron models are used is by comparing the number and complexity of mitochondria present in normal cells against cells that have a mutation. While critical to the life of any cell, mitochondria are especially important in neural cells. Downregulation of mitochondrial expression caused by the Optineurin (OPTN) E50K mutation is associated with glaucomatous phenotypes. Retinal ganglion cells (RGCs) underwent immunostaining and were quantified in terms of their mitochondrial expression to extrapolate the relationship between mitochondrial expression and the glaucomatous phenotype. Without proper generation of ATP, the neurons are observed to have less complexity. Quantification of mitochondrial expression can be performed with various compounds to determine of their presence can help stimulate neural development, which can eventually be implemented on patients with various neurodegenerative phenotypes.