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 […]
Idebenone Protects Photoreceptors Impaired by Oxidative Phosphorylation Disorder in Retinal Detachment
Invest Ophthalmol Vis Sci. 2025 Jan 2;66(1):17. doi: 10.1167/iovs.66.1.17. ABSTRACT PURPOSE: Oxidative phosphorylation (OXPHOS) is an aerobic metabolic mechanism, and its dysfunction plays an important role in the pathological changes of ischemic diseases. However, systematic studies on the occurrence of retinal detachment (RD) are lacking. METHODS: Single-cell RNA sequencing (scRNA-seq) of the human retina was […]
A Cerium Oxide Loaded Hyaluronic Acid Nanosystem Remits Glucose Oxidative Stress-Induced Odontoblasts Mitochondrial Apoptosis through Regulation of PGAM5 Pathway
ACS Appl Mater Interfaces. 2025 Jan 8. doi: 10.1021/acsami.4c13484. Online ahead of print. ABSTRACT Diabetes mellitus (DM) induced mitochondrial oxidative stress (OS) can lead to severe injury of dental pulp. The cerium oxide nanoparticles (CNP) have been proven to have excellent antioxidative activity. However, whether CNP can relieve dental pulp damage caused by DM and […]
Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies
Genes (Basel). 2024 Nov 29;15(12):1559. doi: 10.3390/genes15121559. ABSTRACT Background/Objectives: Optic neuropathies are a category of illnesses that ultimately cause damage to the optic nerve, leading to vision impairment and possible blindness. Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstrate intricate genetic foundations and varied phenotypic manifestations. This narrative […]