Author : Azhariah Nur B. Arafah, Azhar Dzulhadj B. Arafah, Burhanuddin Arafah,
European Journal of Molecular & Clinical Medicine,
2020, Volume 7, Issue 8, Pages 6027-6035
Gene therapy is a medical procedure that inserts a normal sequence of genetic material into living cells to rectify a malfunctioning DNA by replacing, altering or augmenting the defective form of the DNA. Gene Therapy has been known to be a promising treatment for genetic disorders, especially monogenic diseases such as Inherited Retinal Disorders (IRD). One of the most common types of IRD is X-Linked Retinitis Pigmentosa (XLRP), which is attributed to the mutation of the retinitis pigmentosa GTPase regulatore (RPGR) gene. Gene therapy using engineered CRISPR- Cas9 complex and Adeno-associated viral (AAV) vectors is capable to detect DNA mutation which could lead to an efficient transfection. This article reviews the underlying molecular mechanism of XLRP; the characteristics of the blood-retinal barrier (BRB) and other cellular structures of the retina as the ideal site to perform gene delivery; as well as recommended approaches in performing subretinal injection to achieve optimal outcomes.
Keywords: Gene therapy, x-linked retinitis pigmentosa, retinitis pigmentosa GTPase regulator (RPGR), adeno-associated virus (AAV)