IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy
Front Ophthalmol (Lausanne). 2025 Nov 5;5:1688232. doi: 10.3389/fopht.2025.1688232. eCollection 2025. ABSTRACT Autosomal dominant optic atrophy (ADOA) is among the most prevalent inherited optic neuropathies with hallmark symptoms of bilateral, painless, progressive, and typically permanent vision loss over time. ADOA can affect patients’ quality of life with debilitating visual symptoms, and there is a pressing need […]
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
2025 Nov 20. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency can be categorized into three subtypes based on age of presentation. Neonatal onset, the least frequent phenotype, is characterized by hypotonia, seizures, […]
Kenny mediates the recruitment of the phagophore for ubiquitin-dependent mitophagy in Drosophila neurons
Mol Biol Cell. 2025 Nov 19:mbcE25050235. doi: 10.1091/mbc.E25-05-0235. Online ahead of print. ABSTRACT The maintenance of healthy mitochondria is essential to neuronal homeostasis. Mitophagy is a critical mechanism that degrades damaged mitochondria, and disruption of this process is associated with neurodegenerative disease. Previous work has shown that mammalian optineurin (OPTN), a gene mutated in familial […]
Protective effects of luteolin on high glucose-induced ferroptosis in müller cells
Int Ophthalmol. 2025 Nov 19;45(1):494. doi: 10.1007/s10792-025-03850-6. ABSTRACT PURPOSE: This study aims to investigate the protective effects of luteolin on Müller cells under high glucose conditions and to elucidate its potential mechanisms of action. METHODS: Firstly, Primary rat retinal Müller cells were divided into three groups: a control group (Control), a high glucose group (HG), […]
Impact of the Warburg effect on nucleotide homeostasis in human retinal endothelial cells and its relevance to proliferative diabetic retinopathy
Front Pharmacol. 2025 Nov 3;16:1660067. doi: 10.3389/fphar.2025.1660067. eCollection 2025. ABSTRACT PURPOSE: While great progress has been made in screening methods and therapies for proliferative diabetic retinopathy (PDR), it is still a major cause of blindness. Rapidly dividing cells reprogram their metabolism toward hyperglycolysis (the Warburg effect), a process recently implicated in angiogenesis. In this study, […]
Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2025 Nov 12:1-11. doi: 10.3724/zdxbyxb-2025-0241. Online ahead of print. ABSTRACT OBJECTIVES: To investigate the molecular mechanism underlying Leber hereditary optic neuropathy (LHON) caused by the m.3472T>C (p.Phe56Leu) mutation. METHODS: From a cohort of 1397 LHON patients, three large pedigrees (WZL122, WZ676, WZ706) carrying the m.3472T>C mutation were […]
Formulation and evaluation of probucol-LCA nanoparticles for supressing oxidative stress-related retinal degeneration
Drug Deliv Transl Res. 2025 Nov 18. doi: 10.1007/s13346-025-02010-8. Online ahead of print. ABSTRACT Retinal degenerative diseases are a major cause of vision loss worldwide, with oxidative stress being a key pathological driver. This study aimed to develop and evaluate probucol-lithocholic acid (LCA) nanoparticles for targeted retinal protection. Nanoparticles were formulated via spray drying of […]
IDH3A-related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant
Ophthalmic Genet. 2025 Nov 18:1-4. doi: 10.1080/13816810.2025.2590165. Online ahead of print. ABSTRACT BACKGROUND: Among the genes implicated in inherited retinal degenerations (IRDs), disease-causing variants in IDH3A have recently been reported, although they remain exceedingly rare. In some cases, these variants are associated with macular pseudocoloboma. IDH3A encodes the alpha subunit of the mitochondrial NAD+-dependent isocitrate […]
Mfn2 Regulates Scleral Remodeling in Myopia by Maintaining Endoplasmic Reticulum Homeostasis in Scleral Fibroblasts
Invest Ophthalmol Vis Sci. 2025 Nov 3;66(14):40. doi: 10.1167/iovs.66.14.40. ABSTRACT PURPOSE: Endoplasmic reticulum (ER) stress participates in the development of various disorders by regulating tissue remodeling and apoptosis. This study aimed to explore the regulatory role of mitofusin 2 (Mfn2)-mediated ER stability in scleral remodeling in myopia. METHODS: Myopia was induced in rats by form […]
Activation of cGAS-STING signaling in senescent cells promotes the aging process by remodeling the functions of the immune system
Biogerontology. 2025 Nov 16;27(1):4. doi: 10.1007/s10522-025-10353-5. ABSTRACT An accumulation of senescent cells within tissues is a hallmark of the aging process. Cellular senescence is associated with an increased level of cytosolic dsDNA which primarily originates from a leakage of mitochondrial DNA (mtDNA) and a loss of genomic DNA integrity. Cytosolic dsDNA is an important alarming […]