Glaucoma is a leading cause of irreversible blindness worldwide which affects all age groups. It is often identified by high intraocular pressure, characteristic optic neuropathy, and vision loss. Due to multifactorial nature of glaucoma pathogenesis, the molecular events responsible for its precipitation are currently poorly understood. Mitochondrial DNA (mtDNA) variations which are inherited maternally are being closely studied in recent times to elucidate the effect on glaucoma. Mitochondrial genetic studies till date have found a possible link between Leber hereditary optic neuropathy loci and glaucoma but with conflicting views. Furthermore, whole mtDNA studies in glaucoma points at the involvement of oxidative phosphorylation complex I and specifically the NADH dehydrogenase gene in glaucoma. This review focuses on identifying the potential genes and variations in the maternally inherited mtDNA which might be involved in glaucoma pathogenesis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11238935 | PMC |
| http://dx.doi.org/10.4103/meajo.meajo_132_23 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Decoding the Therapeutic Target SVEP1: Harnessing Molecular Trait GWASs to Unravel Mechanisms of Human Disease.
Annu Rev Pharmacol Toxicol
January 2025
Center for Cardiovascular Research, Division of Cardiology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA; email:
Although human genetics has substantial potential to illuminate novel disease pathways and facilitate drug development, identifying causal variants and deciphering their mechanisms remain challenging. We believe these challenges can be addressed, in part, by creatively repurposing the results of molecular trait genome-wide association studies (GWASs). In this review, we introduce techniques related to molecular GWASs and unconventionally apply them to understanding , a human coronary artery disease risk locus.
View Article and Find Full Text PDFCorneal Stromal Stem Cell-Derived Extracellular Vesicles Attenuate ANGPTL7 Expression in the Human Trabecular Meshwork.
Transl Vis Sci Technol
January 2025
Department of Ophthalmology, Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Purpose: Regulating intraocular pressure (IOP), mainly via the trabecular meshwork (TM), is critical in developing glaucoma. Whereas current treatments aim to lower IOP, directly targeting the dysfunctional TM tissue for therapeutic intervention has proven challenging. In our study, we utilized Dexamethasone (Dex)-treated TM cells as a model to investigate how extracellular vesicles (EVs) from immortalized corneal stromal stem cells (imCSSCs) could influence ANGPTL7 and MYOC genes expression within TM cells.
View Article and Find Full Text PDFExplainable Deep Learning for Glaucomatous Visual Field Prediction: Artifact Correction Enhances Transformer Models.
Transl Vis Sci Technol
January 2025
Department of Biomedical Engineering, Faculty of Engineering, Mahidol University, Nakhon Pathom, Thailand.
Purpose: The purpose of this study was to develop a deep learning approach that restores artifact-laden optical coherence tomography (OCT) scans and predicts functional loss on the 24-2 Humphrey Visual Field (HVF) test.
Methods: This cross-sectional, retrospective study used 1674 visual field (VF)-OCT pairs from 951 eyes for training and 429 pairs from 345 eyes for testing. Peripapillary retinal nerve fiber layer (RNFL) thickness map artifacts were corrected using a generative diffusion model.
Eye Movements and the Intraorbital Subarachnoid Space: Potential Contribution of Altered Cerebrospinal Fluid Pumping in Optic Neuropathies.
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, University of California, Los Angeles, California, United States.
Purpose: The optic nerve (ON) is mechanically perturbed by eye movements that shift cerebrospinal fluid (CSF) within its surrounding dural sheath. This study compared changes in ON length and CSF volume within the intraorbital ON sheath caused by eye movements in healthy subjects and patients with optic neuropathies.
Methods: Twenty-one healthy controls were compared with 11 patients having primary open angle glaucoma (POAG) at normal intraocular pressure (IOP), and 11 with chronic non-arteritic anterior ischemic optic neuropathy (NA-AION).
Correlation between internal limiting membrane preservation and sub-epiretinal membrane space during epiretinal membrane surgery.
Jpn J Ophthalmol
January 2025
Department of Ophthalmology, Kitasato Insititute Hospital, Kitasato University, Tokyo, Japan.
Purpose: Internal limiting membrane (ILM) is usually peeled simultaneously with epiretinal membrane (ERM), however, in eyes with glaucoma and ERM, ILM is preserved in order to prevent nerve fiber damage. The aim of this study was to evaluate if a new approach for ERM is effective to keep ILM during surgery.
Study Design: Retrospective consecutive case series.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!