Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases
JAMA Netw Open. 2024 May 1;7(5):e2414198. doi: 10.1001/jamanetworkopen.2024.14198. ABSTRACT IMPORTANCE: Despite advances in next-generation sequencing (NGS), a significant proportion of patients with inherited retinal disease (IRD) remain undiagnosed after initial genetic testing. Exome sequencing (ES) reanalysis in the clinical setting has been suggested as one method for improving diagnosis of IRD. OBJECTIVE: To investigate the […]
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
Orphanet J Rare Dis. 2024 May 29;19(1):220. doi: 10.1186/s13023-024-03225-7. ABSTRACT BACKGROUND: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are scarce. The aim of this study was to examine the validity of different ascertainment sources used in population-based rare diseases registries to detect cases, and […]
Spatial detection of mitochondrial DNA and RNA in tissues
Front Cell Dev Biol. 2024 May 14;12:1346778. doi: 10.3389/fcell.2024.1346778. eCollection 2024. ABSTRACT BACKGROUND: Mitochondrial health has gained attention in a number of diseases, both as an indicator of disease state and as a potential therapeutic target. The quality and amount of mitochondrial DNA (mtDNA) and RNA (mtRNA) can be important indicators of mitochondrial and cell […]
miR-92b-3p protects retinal tissues against DNA damage and apoptosis by targeting BTG2 in experimental myopia
J Transl Med. 2024 May 28;22(1):511. doi: 10.1186/s12967-024-05288-3. ABSTRACT BACKGROUND: Myopia is one of the eye diseases that can damage the vision of young people. This study aimed to explore the protective role of miR-92b-3p against DNA damage and apoptosis in retinal tissues of negative lens-induced myopic (LIM) guinea pigs by targeting BTG2. METHODS: Biometric […]
Rosmarinic acid alleviates fungal keratitis caused by Aspergillus fumigatus by inducing macrophage autophagy
Exp Eye Res. 2024 May 24:109944. doi: 10.1016/j.exer.2024.109944. Online ahead of print. ABSTRACT Fungal keratitis (FK) is an infectious keratopathy can casue serious damage to vision. Its severity is related to the virulence of fungus and response of inflammatory. Rosmarinic acid (RA) extracted from Rosmarinus officinalis exhibits antioxidant, anti-inflammatory and anti-viral properties. The aim of […]
Disrupted mitochondrial transcription factor A expression promotes mitochondrial dysfunction and enhances ocular surface inflammation by activating the absent in melanoma 2 inflammasome
Free Radic Biol Med. 2024 May 24:S0891-5849(24)00467-2. doi: 10.1016/j.freeradbiomed.2024.05.032. Online ahead of print. ABSTRACT PURPOSE: Severe dry eye disease causes ocular surface damage, which is highly associated with mitochondrial dysfunction. Mitochondrial transcription factor A (TFAM) is essential for packaging mitochondrial DNA (mtDNA) and is crucial for maintaining mitochondrial function. Herein, we aimed to explore the […]
Exploring the Associated Genetic Causes of Diabetic Retinopathy as a Model of Inflammation in Retinal Diseases
Int J Mol Sci. 2024 May 17;25(10):5456. doi: 10.3390/ijms25105456. ABSTRACT To investigate potential biomarkers and biological processes associated with diabetic retinopathy (DR) using transcriptomic and proteomic data. The OmicsPred PheWAS application was interrogated to identify genes and proteins associated with DR and diabetes mellitus (DM) at a false discovery rate (FDR)-adjusted p-value of <0.05 and […]
Modulation of Epithelial-Mesenchymal Transition Is a Possible Underlying Mechanism for Inducing Chemoresistance in MIA PaCa-2 Cells against Gemcitabine and Paclitaxel
Biomedicines. 2024 May 3;12(5):1011. doi: 10.3390/biomedicines12051011. ABSTRACT To elucidate the currently unknown molecular mechanisms responsible for the similarity and difference during the acquirement of resistance against gemcitabine (GEM) and paclitaxel (PTX) in patients with pancreatic carcinoma, we examined two-dimensional (2D) and three-dimensional (3D) cultures of parent MIA PaCa-2 cells (MIA PaCa-2-PA) and their GEM resistance […]
Lemon Peel Water Extract: A Novel Material for Retinal Health, Protecting Retinal Pigment Epithelial Cells against Dynamin-Related Protein 1-Mediated Mitochondrial Fission by Blocking ROS-Stimulated Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Pathway
Antioxidants (Basel). 2024 Apr 27;13(5):538. doi: 10.3390/antiox13050538. ABSTRACT Previous studies showed that NaIO3 can induce oxidative stress-mediated retinal pigment epithelium (RPE) damage to simulate age-related macular degeneration (AMD). Lemon peel is rich in antioxidants and components that can penetrate the blood-retinal barrier, but their role in retinal oxidative damage remains unexplored. Here, we explore the […]
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy
Genes (Basel). 2024 Apr 24;15(5):530. doi: 10.3390/genes15050530. ABSTRACT Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of […]