Understanding cataract development in axial myopia: The contribution of oxidative stress and related pathways
Redox Biol. 2025 Jan 10;80:103495. doi: 10.1016/j.redox.2025.103495. Online ahead of print. ABSTRACT Myopia is an evolving global health challenge, with estimates suggesting that by 2050 it will affect half of the world’s population, becoming the leading cause of irreversible vision loss. Moreover, myopia can lead to various complications, including the earlier onset of cataracts. Given […]
Epithelial OPA1 links mitochondrial fusion to inflammatory bowel disease
Sci Transl Med. 2025 Jan 15;17(781):eadn8699. doi: 10.1126/scitranslmed.adn8699. Epub 2025 Jan 15. ABSTRACT Dysregulation at the intestinal epithelial barrier is a driver of inflammatory bowel disease (IBD). However, the molecular mechanisms of barrier failure are not well understood. Here, we demonstrate dysregulated mitochondrial fusion in intestinal epithelial cells (IECs) of patients with IBD and show […]
In vivo imaging of mitochondrial function in normal, glaucoma suspect, and glaucoma eyes
PLoS One. 2025 Jan 14;20(1):e0317354. doi: 10.1371/journal.pone.0317354. eCollection 2025. ABSTRACT To investigate macula and optic nerve head (ONH) mitochondrial metabolic activity using flavoprotein fluorescence (FPF) in normal, glaucoma suspect (GS), and open-angle glaucoma (OAG) eyes we performed a cross-sectional, observational study of FPF in normal, GS, and OAG eyes. The macula and ONH of each […]
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Orphanet J Rare Dis. 2025 Jan 14;20(1):22. doi: 10.1186/s13023-025-03542-5. ABSTRACT BACKGROUND: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources. […]
From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases
Diagnostics (Basel). 2024 Dec 26;15(1):28. doi: 10.3390/diagnostics15010028. ABSTRACT Background: Inherited retinal diseases (IRDs) are a genetically complex group of disorders, usually resulting in progressive vision loss due to retinal degeneration. Traditional imaging methods help in structural assessments, but limitations exist in early functional cellular-level detection that are crucial for guiding new therapies. Methods: This review […]
FABP5 regulates ROS-NLRP3 inflammasome in glutamate-induced retinal excitotoxic glaucomatous model
FASEB J. 2025 Jan 15;39(1):e70281. doi: 10.1096/fj.202400435R. ABSTRACT Fatty acid binding proteins (FABPs) are a class of small molecular mass intracellular lipid chaperone proteins that bind to hydrophobic ligands, such as long-chain fatty acids. FABP5 expression was significantly upregulated in the N-methyl-d-aspartic acid (NMDA) model, the microbead-induced chronic glaucoma model, and the DBA/2J mice. Previous […]
Inhibition of Unc-51-like-kinase is mitoprotective during Pseudomonas aeruginosa infection in corneal epithelial cells
mSphere. 2025 Jan 10:e0053724. doi: 10.1128/msphere.00537-24. Online ahead of print. ABSTRACT Pseudomonas aeruginosa (PA) is an opportunistic gram-negative pathogen that can infect the cornea, leading to permanent vision loss. Autophagy is a cannibalistic process that drives cytoplasmic components to the lysosome for degradation and/or recycling. Autophagy has been shown to play a key role in […]
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. ABSTRACT BACKGROUND: 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 often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants. METHODS: Using […]
Mitochondrial diseases: from molecular mechanisms to therapeutic advances
Signal Transduct Target Ther. 2025 Jan 10;10(1):9. doi: 10.1038/s41392-024-02044-3. ABSTRACT Mitochondria are essential for cellular function and viability, serving as central hubs of metabolism and signaling. They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular activities. Mitochondrial genetic disorders can arise from a wide range of mutations in either mitochondrial or […]
Chronic Progressive External Ophthalmoplegia: A Case Report
Cureus. 2025 Jan 8;17(1):e77149. doi: 10.7759/cureus.77149. eCollection 2025 Jan. ABSTRACT Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial disorder characterized by bilateral, slowly progressive ptosis and paralysis of the extraocular muscles. We present the case of a 61-year-old female with a 36-year history of bilateral ptosis and limited eye movements without diplopia. No family […]