Optometry: Open Access
Open Access

Abstract

Irreversible loss of eyesight caused by glaucoma was estimated to be the second main reason for blindness worldwide. Progression of the disease is due to changes around the optic nerve and others. One type of glaucoma called Primary Congenital Glaucoma (PCG) which has knowledge gap. We aim to study a mutation called (c.182G>A, p.Gly61Glu) within CYP1B1 gene which was reported in PCG. We report the CYP1B1 mutation in the context of microglia, astrocytes and mesenchymal stem cells. The cellular behaviour of those cells needed to maintain eye homeostasis was investigated in response to CYP1B1 mutation. CRISPR technology was used to edit normal CYP1B1 genes within normal astrocytes, microglia and stem cells in vitro. Metabolic activities dropped by 40% after 72 hrs of mutation insertion. In addition, NADP/NADPH reducing equivalent process decreased by 50% on average after 72 hrs of manipulation. The cytokines measured on mutated microglia and astrocytes showed progressive activation leading to apoptosis or abnormality as compared to the control. The results suggested a progressive inflammation that was induced by mutant (p.Gly61Glu) on CYP1B1. Furthermore, the mutant enhances microglia��?s loss of activity. We are the first to show the direct impact of the mutation on microglia. This progressive inflammation might be responsible for primary congenital glaucoma complications which could be avoided by an anti-inflammatory regimen. Moreover, microglia is important for ganglion cells survival along with clearing pathogens and inflammation. The loss of their activities may jeopardize the homeostasis around optic nerve environment and complicate protection to optic nerve components (such as retinal ganglion cells and glial cells).

Biography

Bahauddeen M. Alrfaei is working in King Abdullah International Medical Research Centre (KAIMRC), Cellular Therapy Dept. Stem Cells and Regenerative Medicine Unit. He has published more than 35 papers in reputed journals and has been serving as an editorial board member of repute. His research interest are Cancer Stem Cells, Regenerative Medicine, Pathology, miRNA, Cancer Biology, Flow Cytometer, Cell Signalling, Gene Expression, Primary Cell Culture, Epigenetics, Molecular Biology, Cancer Research, Genetics and Cell Culture.