Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review
Genes (Basel). 2025 Mar 17;16(3):347. doi: 10.3390/genes16030347. ABSTRACT Mitochondria are vital organelles responsible for ATP production and metabolic regulation, essential for energy-intensive cells such as retinal ganglion cells. Dysfunction in mitochondrial oxidative phosphorylation or mitochondrial DNA (mtDNA) pathogenic variants can disrupt ATP synthesis, cause oxidative stress, and lead to cell death. This has profound implications […]
Running a genetic stop sign accelerates oxygen metabolism and energy production in horses
Science. 2025 Mar 28;387(6741):eadr8589. doi: 10.1126/science.adr8589. Epub 2025 Mar 28. ABSTRACT Horses are among nature’s greatest athletes, yet the ancestral molecular adaptations fueling their energy demands are poorly understood. Within a clinically important pathway regulating redox and metabolic homeostasis (NRF2/KEAP1), we discovered an ancient mutation-conserved in all extant equids-that increases mitochondrial respiration while decreasing tissue-damaging […]
Spermidine mitigates blue-light-induced corneal injury by alleviating oxidative stress and restoring autophagy impairment
Exp Eye Res. 2025 Mar 24:110360. doi: 10.1016/j.exer.2025.110360. Online ahead of print. ABSTRACT This study investigated the protective efficacy of spermidine on corneal epithelium exposed to photodamage from artificial blue light (BL). After six weeks of BL exposure, the rabbit cornea exhibited epithelial injury and delayed wound healing accompanied by downregulation of spermidine, as identified […]
Nucleolar ribosomal RNA synthesis continues in differentiating lens fiber cells until abrupt nuclear degradation required for ocular lens transparency
RNA Biol. 2025 Mar 24. doi: 10.1080/15476286.2025.2483118. Online ahead of print. ABSTRACT Cellular differentiation requires highly coordinated action of all three transcriptional systems to produce rRNAs, mRNAs, and various ‘short’ and ‘long’ non-coding RNAs by RNA Polymerase I, II, and III systems, respectively. The RNA Polymerase I catalyzes transcription of about 400 copies of mammalian […]
Future applications of fluorescence lifetime imaging ophthalmoscopy in neuro-ophthalmology, neurology, and neurodegenerative conditions
Front Neurol. 2025 Mar 7;16:1493876. doi: 10.3389/fneur.2025.1493876. eCollection 2025. ABSTRACT Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, […]
Elucidating Molecule-Crosstalk of Neutrophil Extracellular Traps Between Cardiovascular Disease and Psoriasis: Insights Into Mendelian Randomization, Single-Cell RNA Analysis, Shared Targets and the Role of Resveratrol
J Inflamm Res. 2025 Mar 17;18:3913-3935. doi: 10.2147/JIR.S493416. eCollection 2025. ABSTRACT BACKGROUND: Left ventricular hypertrophy (LVH) associated with hypertension and psoriasis (PSO) are linked by poor prognosis. Neutrophil extracellular traps (NETs) are implicated in both conditions, but the mechanisms remain unclear. METHODS: We integrated bulk and single-cell RNA sequencing, mendelian randomization, immune microenvironment analysis, and […]
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa
Genet Med. 2025 Mar 19:101418. doi: 10.1016/j.gim.2025.101418. Online ahead of print. ABSTRACT PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders characterized by the loss rod and cone photoreceptors, leading to visual impairment and blindness. To date, X-linked RP has been associated with variants in three genes (RPGR, RP2, OFD1), while […]
AMPK-dependent Parkin activation suppresses macrophage antigen presentation to promote tumor progression
Sci Adv. 2025 Mar 21;11(12):eadn8402. doi: 10.1126/sciadv.adn8402. Epub 2025 Mar 21. ABSTRACT The constrained cross-talk between myeloid cells and T cells in the tumor immune microenvironment (TIME) restricts cancer immunotherapy efficacy, whereas the underlying mechanism remains elusive. Parkin, an E3 ubiquitin ligase renowned for mitochondrial quality control, has emerged as a regulator of immune response. […]
Identifying microglia-derived NFKBIA as a potential contributor to the pathogenesis of Alzheimer’s disease and age-related macular degeneration
J Alzheimers Dis. 2025 Mar 19:13872877251326267. doi: 10.1177/13872877251326267. Online ahead of print. ABSTRACT BackgroundAlzheimer’s disease (AD) and age-related macular degeneration (AMD) place considerable health burden on affected individuals and significant economic burden on society.ObjectiveThis study aims to explore the shared cellular and molecular mechanisms underlying the pathogenesis of AD and AMD.MethodsThe investigation in this study […]
Retinal Pigment Epithelium and Monocytes’ Mitochondrial Control of Ferroptosis and its Relevance to Age-Related Macular Degeneration
Mol Neurobiol. 2025 Mar 18. doi: 10.1007/s12035-025-04832-6. Online ahead of print. ABSTRACT Age-related macular degeneration (AMD) is the leading cause of vision impairment among older aged people. Recent studies have indicated that focusing on the underlying mechanism of ferroptosis (a form of iron-dependent cell death) could be crucial in understanding the progression of AMD, as […]