mTOR signalling in RPGR-associated Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a debilitating retinal degeneration condition that affects about 1 in 5000 people worldwide. This condition usually results in the loss of sight of patients by age 60 or 30 in severe cases. Disease causing alterations to the sequence of the retinitis pigmentosa GTPase regulator gene (RPGR), is a leading of RP, and male patients usually suffer the worst forms of RPGR-associated RP due to the location of this gene on chromosome X.
The function of the RPGR protein is not yet fully understood; consequently, there are no medication-based treatments for RPGR-associated RP though gene replacement therapy treatment options are currently under clinical trials. However, the RPGR protein is known to localize to the primary cilium, a sensory organelle that is involved in the regulation of multiple intracellular signalling pathways.
In this thesis, we focus on exploiting the intracellular signalling pathways that are dysregulated due to the loss of RPGR function. An understanding of the dysregulation of signalling pathways following the loss of RPGR function is important for understanding the molecular function of RPGR and could potentially provide avenues for medication-based therapeutic intervention for patients suffering from RPGR-associated RP.