SIRT1-based therapy targets a gene program involved in mitochondrial turnover in a model of retinal neurodegeneration
Sci Rep. 2025 Apr 19;15(1):13585. doi: 10.1038/s41598-025-97456-8. ABSTRACT Neurodegenerative diseases of the eye such as optic neuritis (ON) are hallmarked by retinal ganglion cell (RGC) loss and optic nerve degeneration leading to irreversible blindness. Therapeutic interventions enhancing expression or activity of SIRT1, an NAD+-dependent deacetylase, support, at least in part, survival of RGCs in the […]
Metabolic rewiring caused by mitochondrial dysfunction promotes mTORC1-dependent skeletal aging
Sci Adv. 2025 Apr 18;11(16):eads1842. doi: 10.1126/sciadv.ads1842. Epub 2025 Apr 18. ABSTRACT Decline of mitochondrial respiratory chain (mtRC) capacity is a hallmark of mitochondrial diseases. Patients with mtRC dysfunction often present reduced skeletal growth as a sign of premature cartilage degeneration and aging, but how metabolic adaptations contribute to this phenotype is poorly understood. Here […]
Unraveling the IDH3A: Expanding the Genotypic Spectrum of Macular Pseudocoloboma
Int J Mol Sci. 2025 Apr 3;26(7):3364. doi: 10.3390/ijms26073364. ABSTRACT Disease-causing variants in the IDH3A gene are associated with autosomal recessive retinitis pigmentosa 90 (RP90) and Leber congenital amaurosis, with or without macular pseudocoloboma. Here, we report two patients: one compound heterozygous for IDH3A c.364G>A, p.(Ala122Thr), which has conflicting classifications, and for IDH3A c.293C>T, p.(Pro98Leu), […]
Zeolitic Imidazolate Framework-90 Treats Fungal Keratitis by Promoting Macrophage Apoptosis and Targeting Increased Mitochondrial Reactive Oxygen Species in Aspergillus Fumigatus
Int J Nanomedicine. 2025 Apr 12;20:4551-4569. doi: 10.2147/IJN.S517169. eCollection 2025. ABSTRACT BACKGROUND: Fungal keratitis is a severe vision-threatening corneal infection with a prognosis influenced by fungal virulence and the host’s immune defense mechanisms. However, there is still a lack of effective drugs that attenuate fungal virulence while relieving the inflammatory response caused by fungal keratitis. […]
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
HGG Adv. 2025 Apr 15:100441. doi: 10.1016/j.xhgg.2025.100441. Online ahead of print. ABSTRACT Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is not always specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic […]
Physalin A induces apoptosis through conjugating with Fas-FADD cell death receptor in human oral squamous carcinoma cells and suppresses HSC-3 cell xenograft tumors in NOD/SCID mice
Hum Exp Toxicol. 2025 Jan-Dec;44:9603271251335220. doi: 10.1177/09603271251335220. Epub 2025 Apr 16. ABSTRACT IntroductionOral carcinoma cancer exhibits high global incidence and mortality. Physalin A (PA) was reported to induce programmed cell death in cancer cells. No study has yet investigated the influence of PA in oral squamous cell carcinoma. Herein, this study aims to explore PA-induced […]
Effect of regular exercise on ocular inflammation and mitochondrial biogenesis in experimental Alzheimer’s disease model
Cell Mol Biol (Noisy-le-grand). 2025 Apr 15;71(3):117-123. doi: 10.14715/cmb/2025.71.3.14. ABSTRACT This study investigates the effects of regular exercise on inflammation and mitochondrial biogenesis in the eye using a controlled experimental Alzheimer’s disease (AD) model. Twenty-four male Wistar rats were divided into four groups: control, Alzheimer, exercise, and Alzheimer with exercise. Molecular markers, including Nuclear Factor […]
The causal impact of gut microbiota and metabolites on myopia and pathological myopia: a mediation Mendelian randomization study
Sci Rep. 2025 Apr 15;15(1):12928. doi: 10.1038/s41598-025-97722-9. ABSTRACT Myopia, a major cause of irreversible visual impairment globally, is projected to affect about 25% of the world’s population by 2025. Myopia progresses through childhood and adolescence, necessitating frequent prescription updates. While genetic and environmental factors are well-established contributors to myopia, emerging evidence suggests a significant role […]
Proliferator-Activated Receptor Alpha Inhibits Abnormal Extracellular Matrix Accumulation and Maintains Energy Metabolism in Late-Onset Fuchs Endothelial Corneal Dystrophy
Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):36. doi: 10.1167/iovs.66.4.36. ABSTRACT PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is the most common corneal endothelial dystrophy and guttae are crucial in causing progressive loss of corneal endothelium. This study aimed to find a way to inhibit the formation of guttae in FECD. METHODS AND RESULTS: Mitochondria fatty acid […]
Maculopathy after long-term use of fondaparinux, a heparin mimetic and heparanase inhibitor
Am J Ophthalmol Case Rep. 2025 Mar 22;38:102308. doi: 10.1016/j.ajoc.2025.102308. eCollection 2025 Jun. ABSTRACT PURPOSE: To report maculopathy associated with the long-term use of fondaparinux, a heparin mimetic and inhibitor of the extracellular matrix enzyme, heparanase. OBSERVATIONS: A 41-year-old woman receiving thrice weekly injections of fondaparinux as prophylaxis against deep vein thrombosis for 9 years […]