Chlorine-Induced Toxicity on Murine Cornea: Exploring the Potential Therapeutic Role of Antioxidants
Cells. 2024 Mar 5;13(5):458. doi: 10.3390/cells13050458. ABSTRACT Chlorine (Cl2) exposure poses a significant risk to ocular health, with the cornea being particularly susceptible to its corrosive effects. Antioxidants, known for their ability to neutralize reactive oxygen species (ROS) and alleviate oxidative stress, were explored as potential therapeutic agents to counteract chlorine-induced damage. In vitro experiments […]
Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants
BMJ Open Ophthalmol. 2024 Mar 11;9(1):e001295. doi: 10.1136/bmjophth-2023-001295. ABSTRACT BACKGROUND: We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction. METHOD: A group of LHON-affected patients (n=12) and their asymptomatic maternal relatives (n=16) underwent examination including visual acuity (VA), visual-evoked-potential and […]
Drp1-dependent mitochondrial fragmentation mediates photoreceptor abnormalities in type 1 diabetic retina
Exp Eye Res. 2024 Mar 9:109860. doi: 10.1016/j.exer.2024.109860. Online ahead of print. ABSTRACT Recent studies have highlighted that retinal neurodegeneration precedes microvascular changes in diabetic retinopathy (DR), but the specific mechanisms remain unclear. Given the pivotal role of dysfunctional mitochondria and oxidative stress in early DR, our objective was to observe mitochondria-related alterations in the […]
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Genet Med. 2024 Mar 7:101119. doi: 10.1016/j.gim.2024.101119. Online ahead of print. ABSTRACT PURPOSE: FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but […]
The paradigm change from reactive medical services to 3PM in ischemic stroke: a holistic approach utilising tear fluid multi-omics, mitochondria as a vital biosensor and AI-based multi-professional data interpretation
EPMA J. 2024 Feb 27;15(1):1-23. doi: 10.1007/s13167-024-00356-6. eCollection 2024 Mar. ABSTRACT Worldwide stroke is the second leading cause of death and the third leading cause of death and disability combined. The estimated global economic burden by stroke is over US$891 billion per year. Within three decades (1990-2019), the incidence increased by 70%, deaths by 43%, […]
Correlation between ellipsoid zone thickness and the presence of subretinal drusenoid deposits in age-related macular degeneration
BMJ Open Ophthalmol. 2024 Mar 9;9(1):e001622. doi: 10.1136/bmjophth-2023-001622. ABSTRACT PURPOSE: Subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are associated with systemic vascular diseases that compromise ocular perfusion. We demonstrate that SDDs are associated with decreased ellipsoid zone (EZ) thickness, further evidence of hypoxic damage. METHODS: Post hoc analysis of a cross-sectional study. 165 […]
Mitochondrial DNA mutations in Korean patients with Leber’s hereditary optic neuropathy
Sci Rep. 2024 Mar 8;14(1):5702. doi: 10.1038/s41598-024-56215-x. ABSTRACT In order to explore the spectrum of mitochondrial DNA (mtDNA) mutations in Korean patients with Leber’s hereditary optic neuropathy (LHON), we investigated the spectrum of mtDNA mutations in 145 Korean probands confirmed with the diagnosis of LHON. Total genomic DNA was isolated from the peripheral blood leukocytes […]
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. ABSTRACT FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero […]
WNT-inhibitory factor 1-mediated glycolysis protects photoreceptor cells in diabetic retinopathy
J Transl Med. 2024 Mar 6;22(1):245. doi: 10.1186/s12967-024-05046-5. ABSTRACT BACKGROUND: In diabetic retinopathy (DR), hypoxia-inducible factor (HIF-1α) induces oxidative stress by upregulating glycolysis. This process leads to neurodegeneration, particularly photoreceptor cell damage, which further contributes to retinal microvascular deterioration. Further, the regulation of Wnt-inhibitory factor 1 (WIF1), a secreted Wnt signaling antagonist, has not been […]
International consensus guidelines for the definition, detection, and interpretation of autophagy-dependent ferroptosis
Autophagy. 2024 Mar 5. doi: 10.1080/15548627.2024.2319901. Online ahead of print. ABSTRACT Macroautophagy/autophagy is a complex degradation process with a dual role in cell death that is influenced by the cell types that are involved and the stressors they are exposed to. Ferroptosis is an iron-dependent oxidative form of cell death characterized by unrestricted lipid peroxidation […]