The rAAV2-ND1 gene therapy for Leber hereditary optic neuropathy
Graefes Arch Clin Exp Ophthalmol. 2025 Feb 24. doi: 10.1007/s00417-025-06776-y. Online ahead of print. ABSTRACT PURPOSE: No effective treatment for leber hereditary optic neuropathy (LHON) caused by ND1 mutation is available.This study evaluated the safety and efficacy of a single unilateral intravitreal injection rAAV2-ND1 in various doses for the treatment of LHON. METHODS: Twelve patients […]
GSDMD-mediated pyroptosis: molecular mechanisms, diseases and therapeutic targets
Mol Biomed. 2025 Feb 25;6(1):11. doi: 10.1186/s43556-025-00249-8. ABSTRACT Pyroptosis is a regulated form of inflammatory cell death in which Gasdermin D (GSDMD) plays a central role as the key effector molecule. GSDMD-mediated pyroptosis is characterized by complex biological features and considerable heterogeneity in its expression, mechanisms, and functional outcomes across various tissues, cell types, and […]
Development of a cell-penetrating peptide-based nanocomplex for long-term delivery of intact mitochondrial DNA into epithelial cells
Mol Ther Nucleic Acids. 2025 Jan 16;36(1):102449. doi: 10.1016/j.omtn.2025.102449. eCollection 2025 Mar 11. ABSTRACT Gene therapy approaches for mitochondrial DNA (mtDNA)-associated damage/diseases have thus far been limited, and despite advancements in single gene therapy for mtDNA mutations and progress in mitochondrial transplantation, no method exists for restoring the entire mtDNA molecule in a clinically translatable […]
Cigarette smoke and biological age induce degenerative heterogeneity in retinal pigment epithelium
bioRxiv [Preprint]. 2025 Jan 28:2025.01.27.635096. doi: 10.1101/2025.01.27.635096. ABSTRACT Environmental exposure such as cigarette smoke induces epigenetic changes that can induce degenerative heterogeneity and accelerate aging. In early age-related macular degeneration (AMD), the leading worldwide cause of blindness among the elderly, retinal pigment epithelial (RPE) cell heterogeneity is a key change. Since smoking is the strongest […]
Unveiling the effect of urinary xenoestrogens on chronic kidney disease in adults: A machine learning model
Ecotoxicol Environ Saf. 2025 Feb 22;292:117945. doi: 10.1016/j.ecoenv.2025.117945. Online ahead of print. ABSTRACT Exposure to three primary xenoestrogens (XEs), including phthalates, parabens, and phenols, has been strongly associated with chronic kidney disease (CKD). An interpretable machine learning (ML) model was developed to predict CKD using data from the National Health and Nutrition Examination Survey (NHANES) […]
MiR-224-3p regulates ferroptosis and inflammation in lens epithelial cells by targeting ACSL4
Exp Eye Res. 2025 Feb 20:110306. doi: 10.1016/j.exer.2025.110306. Online ahead of print. ABSTRACT In this study, we investigated the expression levels of miR-224-3p and inflammatory factors in the lens epithelium of patients with high myopia cataract (HMC) to determine how miR-224-3p/ACSL4 affects ferroptosis and inflammation in human lens epithelial cells (HLECs). The expression of miR-224-3p […]
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction
Mol Genet Metab. 2025 Feb 7;144(3):109049. doi: 10.1016/j.ymgme.2025.109049. Online ahead of print. NO ABSTRACT PMID:39986240 | DOI:10.1016/j.ymgme.2025.109049
Calcium (Ca(2+)) fluxes at mitochondria-ER contact sites (MERCS) are a new target of senolysis in therapy-induced senescence (TIS)
NPJ Aging. 2025 Feb 21;11(1):11. doi: 10.1038/s41514-025-00197-1. ABSTRACT Therapy-induced senescence (TIS) alters calcium (Ca²⁺) flux and Mitochondria-ER Contact Sites (MERCS), revealing critical vulnerabilities in senescent cells. In this study, TIS was induced using Doxorubicin and Etoposide, resulting in an increased MERCS contact surface but a significant reduction in ER-mitochondria Ca²⁺ flux. Mechanistically, TIS cells exhibit […]
Leber Hereditary Optic Neuropathy “Plus” with the m.14487 T>C Mutation as the Causality of Hemidystonia: A Case Report
Case Rep Ophthalmol. 2024 Nov 13;15(1):852-858. doi: 10.1159/000542202. eCollection 2024 Jan-Dec. ABSTRACT INTRODUCTION: Leber hereditary optic neuropathy (LHON) complicated with extraocular symptoms is called LHON plus. We describe a case of LHON plus with a rare mutation, which also caused dystonia. CASE PRESENTATION: An 18-year-old male patient developed symptoms of dystonia at the age of […]
Unveiling BCO2 function in macular pigment metabolism: Mitochondrial processing and expression in the primate retina
Biochim Biophys Acta Mol Cell Biol Lipids. 2025 Feb 18:159600. doi: 10.1016/j.bbalip.2025.159600. Online ahead of print. ABSTRACT BCO2 (β-carotene oxygenase 2) converts carotenoids into apocarotenoids by oxidative cleavage across double bonds and controls carotenoid homeostasis in vertebrate tissues. In this study, we examined BCO2’s expression, localization, and activity in human cell lines and the retina. […]