Project description:To better understand the molecular changes in the aqueous humor (AH) content with glaucoma, we analyzed the microRNA (miRNA) profiles of AH samples from patients with Primary Open Angle Glaucoma (POAG) and Exfoliation Glaucoma (XFG) compared to non-glaucoma controls.
Project description:Long non-coding RNAs were associated with the development and progression of glaucoma. Our study aim to identify the potential genes in human trabecular meshwork related to primary open-angle glaucoma (POAG).
Project description:MicroRNAs were associated with the development and progression of glaucoma. Our study aims to identify the potential miRNAs and target genes in human trabecular meshwork related to primary open-angle glaucoma (POAG).
Project description:Study investigates the biological role of small RNAs present in aqueous humor in patients with primary open-angle glaucoma, pseudoexfoliative glaucoma, and cataract, with the aim of identifying molecular biomarkers and improving understanding of disease mechanisms. Aqueous humor samples were collected during ophthalmic surgery, followed by RNA extraction from the cell-free supernatant using a commercial kit designed for low-input RNA. Small RNA sequencing libraries were prepared using adapter ligation with Unique Molecular Identifiers, reverse transcription, PCR amplification, and magnetic bead purification, and library quality was assessed using a microfluidics-based system. The pooled libraries were sequenced using paired-end sequencing on an Illumina NextSeq platform, and the resulting FASTQ files were used for downstream bioinformatic and machine learning analyses integrating molecular, clinical, and imaging data.
Project description:This study compared genome-wide expression profiles of individuals with and without Primary Open-Angle Glaucoma (POAG). One POAG case (case #6 with two replicates #10 and #11) carried a Q368X myocilin mutation.
Project description:Glaucoma is a group of diseases that results in the death of retinal ganglion cells (RGCs), leading to permanent blindness. Myocilin is one of the genetic factors associated with primary open angle glaucoma (POAG) with or without ocular hypertension. Using myocilin-dependent POAG patient-derived iPSC RGCs, we have shown that RGCs harboring the myocilin mutation (A445V) have dysregulated unfolded protein response with developmental and functional abnormalities, which may make them suscepetible to degeneration regardless of ocular hypertension.
