MicroRNA-106a regulates the apoptosis and oxidative stress of porcine trabecular meshwork cells by targeting FAS
Exp Eye Res. 2025 Mar 1:110313. doi: 10.1016/j.exer.2025.110313. Online ahead of print. ABSTRACT This study investigates the impact of miR-106a on trabecular meshwork (TM) and its potential molecular mechanism, as TM dysfunction due to decreased cell viability is a major pathological feature of POAG. Primary porcine TM (PTM) cells were isolated and exposed to hyperoxic […]
Unlocking the genetic blueprint of duchenne muscular dystrophy: A personalized approach with MLPA and WES
Glob Med Genet. 2025 Feb 6;12(2):100038. doi: 10.1016/j.gmg.2025.100038. eCollection 2025 Jun. ABSTRACT BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive X-linked disorder causing muscle degeneration and multisystem involvement, requiring precise genetic diagnosis for timely intervention and treatment. OBJECTIVE: To investigate the genetic landscape of DMD using a two-tiered diagnostic approach combining MLPA and WES, and […]
Stress-induced mitochondrial fragmentation in endothelial cells disrupts blood-retinal barrier integrity causing neurodegeneration
bioRxiv [Preprint]. 2025 Jan 31:2024.12.21.629919. doi: 10.1101/2024.12.21.629919. ABSTRACT Increased vascular leakage and endothelial cell (EC) dysfunction are major features of neurodegenerative diseases. Here, we investigated the mechanisms leading to EC dysregulation and asked whether altered mitochondrial dynamics in ECs impinge on vascular barrier integrity and neurodegeneration. We show that ocular hypertension, a major risk factor […]
Unraveling the role of neuregulin-mediated astrocytes-OPCs axis in the pathogenesis of age-related macular degeneration and Parkinson’s disease
Sci Rep. 2025 Mar 1;15(1):7352. doi: 10.1038/s41598-025-92103-8. ABSTRACT Age-related macular degeneration (AMD) and Parkinson’s disease (PD) are prevalent and debilitating conditions that lead to irreversible blindness and dyskinesia, respectively. Emerging evidences imply that retinal abnormalities may serve as early indicators for monitoring PD. This study endeavors to explore the complex interactions and focus on their […]
PDZK1 regulated by miR-145-5p protects against endothelial cell apoptosis and diabetic retinopathy by targeting mitochondrial function
Exp Eye Res. 2025 Feb 26:110314. doi: 10.1016/j.exer.2025.110314. Online ahead of print. ABSTRACT Mitochondria are a focus of biomedical research because of their role in apoptosis and diabetic retinopathy (DR) initiation and progression. However, the detailed mechanisms underlying mitochondrial disorders and endothelial dysfunction during DR remain elusive. We identified PDZ domain containing 1 (PDZK1) as […]
Rare disease gene association discovery in the 100,000 Genomes Project
Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. ABSTRACT Up to 80% of rare disease patients remain undiagnosed after genomic sequencing1, with many probably involving pathogenic variants in yet to be discovered disease-gene associations. To search for such associations, we developed a rare variant gene burden analytical framework for Mendelian diseases, and applied […]
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial
BMJ Open. 2025 Feb 26;15(2):e091495. doi: 10.1136/bmjopen-2024-091495. ABSTRACT INTRODUCTION: Wolfram syndrome (WFS1-Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression. Sodium valproate, an anticonvulsant with neuroprotective properties, is anticipated to mediate its effect via alteration […]
Mitochondrial Uncoupler, 2,4-Dinitrophenol, Reduces Spinal Cord Paralysis and Retinal Ganglion Cell Loss in the Experimental Autoimmune Encephalomyelitis Model of Multiple Sclerosis
Biomolecules. 2025 Jan 28;15(2):189. doi: 10.3390/biom15020189. ABSTRACT Optic neuritis is an inflammatory demyelinating disease of the optic nerve that often occurs in multiple sclerosis (MS) patients. Sixty percent of patients develop some level of permanent visual loss due to retinal ganglion cell (RGC) damage following optic neuritis, with no known treatment to prevent this loss. […]
Antioxidants in Age-Related Macular Degeneration: Lights and Shadows
Antioxidants (Basel). 2025 Jan 27;14(2):152. doi: 10.3390/antiox14020152. ABSTRACT Age-related macular degeneration (AMD) is a leading cause of vision impairment worldwide, primarily driven by oxidative stress and inflammation. This review examines the role of antioxidants in mitigating oxidative damage, emphasizing both their therapeutic potential and limitations in AMD management. Key findings underscore the efficacy of specific […]
Lysosome-Mitochondrial Crosstalk in Cellular Stress and Disease
Antioxidants (Basel). 2025 Jan 22;14(2):125. doi: 10.3390/antiox14020125. ABSTRACT The perception of lysosomes and mitochondria as entirely separate and independent entities that degrade material and produce ATP, respectively, has been challenged in recent years as not only more complex roles for both organelles, but also an unanticipated level of interdependence are being uncovered. Coupled lysosome and […]