The landscape of clinical trials research in inherited ophthalmic disease

Ophthalmic Genet. 2024 Jul 24:1-8. doi: 10.1080/13816810.2024.2378013. Online ahead of print. ABSTRACT OBJECTIVE: To describe the current status of clinical trials of genetic eye diseases with identified molecular targets for future areas of research. METHOD: Data analysis of the clinical trials database on clinicaltrials.gov with keywords for eight common, genetically tractable inherited eye diseases and […]

Vitamin B5 metabolism is essential for vacuolar and mitochondrial functions and drug detoxification in fungi

Commun Biol. 2024 Jul 23;7(1):894. doi: 10.1038/s42003-024-06595-7. ABSTRACT Fungal infections, a leading cause of mortality among eukaryotic pathogens, pose a growing global health threat due to the rise of drug-resistant strains. New therapeutic strategies are urgently needed to combat this challenge. The PCA pathway for biosynthesis of Co-enzyme A (CoA) and Acetyl-CoA (AcCoA) from vitamin […]

Inhibition of mTOR differently modulates planar and subepithelial fibrogenesis in human conjunctival fibroblasts

Graefes Arch Clin Exp Ophthalmol. 2024 Jul 23. doi: 10.1007/s00417-024-06481-2. Online ahead of print. ABSTRACT PURPOSE: In the current investigation, the effects of the mTOR inhibitors, Rapa and Torin1 on the TGF-β2-induced conjunctival fibrogenesis were studied. STUDY DESIGN: Experimental research. METHODS: 2D and 3D cultures of HconF were subjected to the following analyses; (1) planar […]

The AKT2/SIRT5/TFEB pathway as a potential therapeutic target in non-neovascular AMD

Nat Commun. 2024 Jul 21;15(1):6150. doi: 10.1038/s41467-024-50500-z. ABSTRACT Non-neovascular or dry age-related macular degeneration (AMD) is a multi-factorial disease with degeneration of the aging retinal-pigmented epithelium (RPE). Lysosomes play a crucial role in RPE health via phagocytosis and autophagy, which are regulated by transcription factor EB/E3 (TFEB/E3). Here, we find that increased AKT2 inhibits PGC-1α […]

The Role of NLRP3 Inflammasome in the Pathogenesis of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Med Res Arch. 2024 Jan;12(1). doi: 10.18103/mra.v12i1.4939. Epub 2024 Jan 30. ABSTRACT Stevens Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) are mainly drug-induced severe cutaneous adverse reactions with increased mortality. It also involves the eyes causing ocular surface disease leading to visual impairment and blindness. The role of NLRP3 Inflammasome in causing ocular surface disease and keratinocyte […]

Regulatory factors of Nrf2 in age-related macular degeneration pathogenesis

Int J Ophthalmol. 2024 Jul 18;17(7):1344-1362. doi: 10.18240/ijo.2024.07.21. eCollection 2024. ABSTRACT Age-related macular degeneration (AMD) is a complicated disease that causes irreversible visual impairment. Increasing evidences pointed retinal pigment epithelia (RPE) cells as the decisive cell involved in the progress of AMD, and the function of anti-oxidant capacity of PRE plays a fundamental physiological role. […]

SIRT4 Protects Muller Glial Cells Against Apoptosis by Mediating Mitochondrial Dynamics and Oxidative Stress

Mol Neurobiol. 2024 Jul 18. doi: 10.1007/s12035-024-04349-4. Online ahead of print. ABSTRACT SIRT4 is a member of the sirtuin family, which is related to mitochondrial function and possesses antioxidant and regulatory redox effects. Currently, the roles of SIRT4 in retinal Müller glial cells, oxidative stress, and mitochondrial function are still unclear. We confirmed, by immunofluorescence […]

Minocycline prevents photoreceptor degeneration in Retinitis pigmentosa through modulating mitochondrial homeostasis

Int Immunopharmacol. 2024 Jul 16;139:112703. doi: 10.1016/j.intimp.2024.112703. Online ahead of print. ABSTRACT Minocycline, a broad-spectrum tetracycline antibiotic, has been shown to possess anti-inflammatory and antioxidative effects in various neurodegenerative diseases. However, its specific effects on retinitis pigmentosa (RP) have not been thoroughly investigated. Therefore, the objective of this study was to explore the potential role […]

Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant

Case Rep Ophthalmol. 2024 Jun 20;15(1):513-517. doi: 10.1159/000539445. eCollection 2024 Jan-Dec. ABSTRACT INTRODUCTION: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of three variants, but several less common variants also […]

Single-cell transcriptomic analysis reveals the antiangiogenic role of Mgarp in diabetic retinopathy

BMJ Open Diabetes Res Care. 2024 Jul 16;12(4):e004189. doi: 10.1136/bmjdrc-2024-004189. ABSTRACT INTRODUCTION: Diabetic retinopathy (DR) is a common vascular complication of diabetes mellitus and a leading cause of vision loss worldwide. Endothelial cell (EC) heterogeneity has been observed in the pathogenesis of DR. Elucidating the underlying mechanisms governing EC heterogeneity may provide novel insights into […]