Airborne Exposure of the Cornea to PM10 Induces Oxidative Stress and Disrupts Nrf2 Mediated Anti-Oxidant Defenses
Int J Mol Sci. 2023 Feb 15;24(4):3911. doi: 10.3390/ijms24043911. ABSTRACT The purpose of this study is to test the effects of whole-body animal exposure to airborne particulate matter (PM) with an aerodynamic diameter of <10 μm (PM10) in the mouse cornea and in vitro. C57BL/6 mice were exposed to control or 500 µg/m3 PM10 for […]
Quantitative Proteomics of Human Retinal Pigment Epithelium Reveals Key Regulators for the Pathogenesis of Age-Related Macular Degeneration
Int J Mol Sci. 2023 Feb 7;24(4):3252. doi: 10.3390/ijms24043252. ABSTRACT Age-related macular degeneration (AMD) is the leading cause of blindness in elderly people, with limited treatment options available for most patients. AMD involves the death of retinal pigment epithelium (RPE) and photoreceptor cells, with mitochondria dysfunction being a critical early event. In the current study, […]
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules. 2023 Feb 1;13(2):271. doi: 10.3390/biom13020271. ABSTRACT Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial. These diseases are most often the result of defects in rod and/or cone photoreceptor and retinal pigment epithelium function, development, or both. The genes associated with these diseases, […]
Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum
Ophthalmic Genet. 2023 Mar 1:1-8. doi: 10.1080/13816810.2023.2183223. Online ahead of print. ABSTRACT BACKGROUND: Harel-Yoon syndrome (HAYOS) is a recently described neurodevelopmental disorder characterized by psychomotor delay, truncal hypotonia, appendicular spasticity, and peripheral neuropathy. It is caused by mutations in ATAD3A gene located on chromosome 1p.36.33 whose functions include mitochondrial DNA stabilization, the regulation of mitochondrial […]
Rescuing cellular function in Fuchs endothelial corneal dystrophy by healthy exogenous mitochondrial internalization
Sci Rep. 2023 Feb 28;13(1):3380. doi: 10.1038/s41598-023-30383-8. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is characterized by an accelerated loss of corneal endothelial cells. Since the function of these cells is to maintain the cornea in a state of deturgescence necessary for its transparency, the depletion of corneal endothelial cells ultimately causes corneal edema and irreversible […]
FDX1-dependent and independent mechanisms of elesclomol-mediated intracellular copper delivery
Proc Natl Acad Sci U S A. 2023 Mar 7;120(10):e2216722120. doi: 10.1073/pnas.2216722120. Epub 2023 Feb 27. ABSTRACT Recent studies have uncovered the therapeutic potential of elesclomol (ES), a copper-ionophore, for copper deficiency disorders. However, we currently do not understand the mechanism by which copper brought into cells as ES-Cu(II) is released and delivered to cuproenzymes […]
Short communication: unique metabolic signature of proliferative retinopathy in the tear fluid of diabetic patients with comorbidities – preliminary data for PPPM validation
EPMA J. 2023 Feb 22;14(1):1-9. doi: 10.1007/s13167-023-00318-4. Online ahead of print. ABSTRACT Type 2 diabetes (T2DM) defined as the adult-onset type that is primarily not insulin-dependent, comprises over 95% of all diabetes mellitus (DM) cases. According to global records, 537 million adults aged 20-79 years are affected by DM that means at least 1 out […]
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
Pharmaceutics. 2023 Jan 18;15(2):322. doi: 10.3390/pharmaceutics15020322. ABSTRACT AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders have a mitochondrial involvement from primary mitochondrial disorders such as Leber hereditary optic […]
Divergent Metabolomic Signatures of TGFβ2 and TNFα in the Induction of Retinal Epithelial-Mesenchymal Transition
Metabolites. 2023 Jan 31;13(2):213. doi: 10.3390/metabo13020213. ABSTRACT Epithelial-mesenchymal transition (EMT) is a dedifferentiation program in which polarized, differentiated epithelial cells lose their cell-cell adhesions and transform into matrix-producing mesenchymal cells. EMT of retinal pigment epithelial (RPE) cells plays a crucial role in many retinal diseases, including age-related macular degeneration, proliferative vitreoretinopathy, and diabetic retinopathy. This […]
Role of Oxidative Stress in Ocular Diseases: A Balancing Act
Metabolites. 2023 Jan 27;13(2):187. doi: 10.3390/metabo13020187. ABSTRACT Redox homeostasis is a delicate balancing act of maintaining appropriate levels of antioxidant defense mechanisms and reactive oxidizing oxygen and nitrogen species. Any disruption of this balance leads to oxidative stress, which is a key pathogenic factor in several ocular diseases. In this review, we present the current […]