Beyond Ornithine Metabolism in Gyrate Atrophy: Tissue-Specific Proteomic Insights into Neonatal and Adult OAT Deficiency
bioRxiv [Preprint]. 2025 Sep 16:2025.09.10.675383. doi: 10.1101/2025.09.10.675383. ABSTRACT Ornithine aminotransferase (OAT) links the urea and TCA cycles by interconverting ornithine to pyrroline-5-carboxylate. Despite its abundance in the liver, OAT mutations primarily cause gyrate atrophy (GA) and blindness. Paradoxically, adult GA patients have hyperornithinemia that is managed by arginine-restricted diet, while neonates experience hypoornithinemia and require […]
Transferrin is a drug candidate for the treatment of dry age-related macular degeneration (AMD)
Cell Death Dis. 2025 Oct 6;16(1):692. doi: 10.1038/s41419-025-07950-0. ABSTRACT Dysregulation of iron homeostasis plays a crucial role in retinal diseases, contributing to oxidative stress, inflammation, and ferroptosis, key processes that drive the degeneration of the retinal pigment epithelium (RPE) and photoreceptors in age-related macular degeneration (AMD). Previous studies, though limited in patient numbers, have reported […]
ZFP36 promotes ferroptosis and mitochondrial dysfunction and inhibits malignant progression in osteosarcoma by regulating the E2F1/ATF4 axis
J Pharm Anal. 2025 Sep;15(9):101228. doi: 10.1016/j.jpha.2025.101228. Epub 2025 Feb 12. ABSTRACT Zinc finger protein 36 (ZFP36) was found to be downregulated in osteosarcoma (OS) tumor tissues. We aimed to investigate the roles and mechanisms of ZFP36 in ferroptosis regulation during OS development. Two Gene Expression Omnibus (GEO) datasets showed that ZFP36 was a differentially […]
Association between Disorders of Lipid Metabolism and Oculopathy: An Overview
Int J Med Sci. 2025 Aug 22;22(15):3878-3894. doi: 10.7150/ijms.116512. eCollection 2025. ABSTRACT Lipid metabolism disorders, which lead to lipid deposition or changes in blood lipid composition, play a significant role in inducing or exacerbating the pathogenesis of diseases such as hypercholesterolemia and diabetes. Moreover, these disorders are closely associated with the development and progression of […]
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
Genet Med. 2025 Oct 1:101595. doi: 10.1016/j.gim.2025.101595. Online ahead of print. ABSTRACT PURPOSE: Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a genetic cause still […]
Regulation of the PERK pathway attenuates hypoxia-induced apoptosis in a 661W photoreceptor cell model
Exp Eye Res. 2025 Oct 1:110667. doi: 10.1016/j.exer.2025.110667. Online ahead of print. ABSTRACT High-altitude retinopathy (HAR), characterized by retinal dysfunction under hypobaric hypoxia, remains mechanistically unclear. This study explored hypoxia-induced molecular injury in retinal photoreceptor cells using a hypoxic 661W cell model and identified potential therapeutic targets. Hypoxia triggered endoplasmic reticulum (ER) stress in 661W […]
GPX1-driven selenium nanoplatform reprograms MAMs-mediated organelle crosstalk to reverse inflammatory adipose expansion in thyroid eye disease
Theranostics. 2025 Aug 30;15(18):9601-9622. doi: 10.7150/thno.117582. eCollection 2025. ABSTRACT Background: Thyroid eye disease (TED) is a multifactorial autoimmune disorder with limited therapeutic options due to the complexity of its oxidative, metabolic, and inflammatory networks. This study aims to develop a selenium-based nanoplatform that targets mitochondria-ER interactions to reverse inflammatory adipose expansion in TED. Methods: We […]
Current status and solutions for AI ethics in ophthalmology: a bibliometric analysis
NPJ Digit Med. 2025 Oct 2;8(1):594. doi: 10.1038/s41746-025-01976-6. ABSTRACT Ophthalmology, an early adopter of medical artificial intelligence (AI), has made significant advancements, but ethical discussions limited. This bibliometric analysis reviewed 498 publications from Web of Science and Scopus (2000-2023) to explore the evolution, status, thematic trends, data modalities and their ethical focus, and solutions in […]
Targeted LC-MS profiling reveals dysregulated glycolytic flux and TCA cycle stalling in POAG plasma
Sci Rep. 2025 Oct 1;15(1):34212. doi: 10.1038/s41598-025-15836-6. ABSTRACT Glaucoma is the leading cause of irreversible blindness. Primary open-angle glaucoma (POAG) is the most common form globally and has been linked to mitochondrial dysfunction and energy deficiency. Plasma was used to investigate the energy metabolomic profiles of patients with POAG and controls, and to determine the […]
Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study
BMC Ophthalmol. 2025 Sep 30;25(1):520. doi: 10.1186/s12886-025-04194-6. ABSTRACT BACKGROUND: Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles. Progressive external ophthalmoplegia (PEO), eyelid ptosis, exercise intolerance and skeletal muscle weakness are the most common symptoms of myopathy in mitochondrial diseases, impairing ocular motility […]