Efficacy and safety of intravitreal rAAV2-ND4 therapy for Leber’s hereditary optic neuropathy
Eye (Lond). 2025 Sep 30. doi: 10.1038/s41433-025-03972-2. Online ahead of print. ABSTRACT BACKGROUND: This study aimed to assess the safety and efficacy of a rAAV2 carrying normal ND4 (rAAV2-ND4) (NR082) in individuals with visual loss due to LHON carrying the m.11778G>A mutation. Additionally, it aimed to determine a safe dose of NR082 for intravitreal injection. […]
Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome
Epileptic Disord. 2025 Sep 30. doi: 10.1002/epd2.70107. Online ahead of print. ABSTRACT OBJECTIVE: The ketogenic diet (KD) is the standard treatment for glucose transporter type 1 deficiency syndrome (GLUT1-DS), typically yielding seizure reduction and cognitive/motor gains. However, a small subset of patients shows limited or no clinical benefit. This phenomenon, referred to as “KD resistance,” […]
PGC1A Restores Mitochondrial Health to Attenuate EMT During Lens Epithelial Fibrosis via Regulating TFAM
Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):67. doi: 10.1167/iovs.66.12.67. ABSTRACT PURPOSE: Epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is a predominant pathological driver for fibrotic cataracts. This study explores the role and mechanism of peroxisome proliferator-activated receptor γ coactivator 1-α (PGC1A), a key mitochondrial regulator, in EMT of LECs. METHODS: RNA-sequencing analysis was applied […]
Subconjunctival Granuloma Caused by Dirofilaria repens in an Indoor Dog From Thailand: A Case Report and Mitochondrial Genome Analysis
Vet Ophthalmol. 2025 Sep 29. doi: 10.1111/vop.70094. Online ahead of print. ABSTRACT OBJECTIVE: To describe a subconjunctival granuloma caused by Dirofilaria repens in a dog from Rayong province, eastern Thailand, along with the successful treatment outcomes. The causative nematode was identified through morphological examination and molecular techniques. ANIMAL STUDIED: A 5-year-old female mixed-breed dog was […]
SGLT-2 inhibitors beyond diabetes: A new frontier in cancer treatment
Diabetes Res Clin Pract. 2025 Sep 26:112925. doi: 10.1016/j.diabres.2025.112925. Online ahead of print. ABSTRACT Sodium-glucose co-transporter 2 (SGLT-2) inhibitors, a new class of antidiabetic medications including canagliflozin, dapagliflozin, ipragliflozin, and empagliflozin, recently came to light as possible anti-cancer therapeutics. The confirmed presence of SGLT-2 in many cancer cell lines further substantiates their potential as therapeutic […]
Iron: More than Meets the Eye
Nutrients. 2025 Sep 16;17(18):2964. doi: 10.3390/nu17182964. ABSTRACT Iron is an essential micronutrient integral to ocular physiology, supporting biochemical processes such as mitochondrial respiration, DNA synthesis and phototransduction. Disruptions in systemic or local iron homeostasis, whether due to overload or deficiency, have been increasingly implicated in the pathogenesis of a broad range of anterior and posterior […]
First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy
Genes (Basel). 2025 Aug 23;16(9):993. doi: 10.3390/genes16090993. ABSTRACT BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and an inherited optic neuropathy. Recently, two different LHON inheritance types have been discovered: mitochondrially inherited LHON (mtLHON) and autosomal recessive LHON (arLHON). Our case report is the first diagnosed case of arLHON in a […]
Imeglimin Alleviates High-Glucose-Induced Bioenergetic and Oxidative Stress Thereby Enhancing Intercellular Adhesion in H9c2 Cardiomyoblasts
Int J Mol Sci. 2025 Sep 12;26(18):8913. doi: 10.3390/ijms26188913. ABSTRACT To elucidate the effects of the new antidiabetic agent, imeglimin (Ime, 2 mM), on high-glucose-induced cellular stress in cardiac cells, its effects were compared with those of the conventional antidiabetic agent metformin (Met, 2 mM) based on various cellular pathophysiological functions. H9c2 cardiomyoblasts were cultured […]
Beyond the Eye: Glaucoma and the Brain
Brain Sci. 2025 Aug 28;15(9):934. doi: 10.3390/brainsci15090934. ABSTRACT Glaucoma is traditionally classified as an ocular disease characterized by progressive retinal ganglion cell (RGC) loss and optic nerve damage. However, emerging evidence suggests that its pathophysiology may extend beyond the eye, involving trans-synaptic neurodegeneration along the visual pathway and structural changes within central brain regions, including […]
Bmal1 deletion alters mitochondrial microstructure and function in mouse cone photoreceptors
iScience. 2025 Aug 22;28(9):113425. doi: 10.1016/j.isci.2025.113425. eCollection 2025 Sep 19. ABSTRACT The mammalian retina contains an autonomous circadian system that regulates ocular physiology. The deletion of the core clock gene Bmal1 in the mouse retina disrupts retinal circuitry, alters cone spectral identity, and reduces cone viability. Cone photoreceptors have the highest energy demand among retinal […]