Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. ABSTRACT BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental […]
Orbicularis Oculi Muscle Immunohistochemical, Metabolic, and Morphometric Differences in Affected and Nonaffected Sides in Hemifacial Spasm vs Healthy Subjects
J Neuroophthalmol. 2022 Dec 6. doi: 10.1097/WNO.0000000000001770. Online ahead of print. ABSTRACT BACKGROUND: Subtle morphological alterations have been reported even in the nonaffected side of the orbicularis oculi muscle in patients with hemifacial spasm. However, no previous study assessed immunohistochemical, metabolic, and morphometric alterations in orbicularis oculi muscle fibers in affected and nonaffected sides in […]
Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis
Retin Cases Brief Rep. 2022 Dec 22. doi: 10.1097/ICB.0000000000001397. Online ahead of print. ABSTRACT PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis […]
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX
Ophthalmic Genet. 2023 Feb 2:1-4. doi: 10.1080/13816810.2023.2172190. Online ahead of print. ABSTRACT BACKGROUND: Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis. RESULTS: We report a case […]
Non-Coding RNAs Regulating Mitochondrial Functions and the Oxidative Stress Response as Putative Targets against Age-Related Macular Degeneration (AMD)
Int J Mol Sci. 2023 Jan 30;24(3):2636. doi: 10.3390/ijms24032636. ABSTRACT Age-related macular degeneration (AMD) is an ever-increasing, insidious disease which reduces the quality of life of millions of elderly people around the world. AMD is characterised by damage to the retinal pigment epithelium (RPE) in the macula region of the retina. The origins of this […]
Autophagy Requirements for Eye Lens Differentiation and Transparency
Cells. 2023 Feb 1;12(3):475. doi: 10.3390/cells12030475. ABSTRACT Recent evidence points to autophagy as an essential cellular requirement for achieving the mature structure, homeostasis, and transparency of the lens. Collective evidence from multiple laboratories using chick, mouse, primate, and human model systems provides evidence that classic autophagy structures, ranging from double-membrane autophagosomes to single-membrane autolysosomes, are […]
Characterization of Oxygen Nanobubbles and In Vitro Evaluation of Retinal Cells in Hypoxia
Transl Vis Sci Technol. 2023 Feb 1;12(2):16. doi: 10.1167/tvst.12.2.16. ABSTRACT PURPOSE: Vein or artery occlusion causes a hypoxic environment by preventing oxygen delivery and diffusion to tissues. Diseases such as retinal vein occlusion, central retinal artery occlusion, or diabetic retinopathy create a stroke-type condition that leads to functional blindness in the effected eye. We aim […]
PINK1/Parkin-mediated mitophagy inhibits osteoblast apoptosis induced by advanced oxidation protein products
Cell Death Dis. 2023 Feb 7;14(2):88. doi: 10.1038/s41419-023-05595-5. ABSTRACT Osteoblast apoptosis plays an important role in age-related bone loss and osteoporosis. Our previous study revealed that advanced oxidation protein products (AOPPs) could induce nicotinamide adenine dinucleotide phosphate oxidase (NOX)-derived reactive oxygen species (ROS) production, cause mitochondrial membrane potential (ΔΨm) depolarization, trigger the mitochondria-dependent intrinsic apoptosis […]
The outcome of boosting mitochondrial activity in alcoholic liver disease (ALD) is organ-dependent
Hepatology. 2023 Feb 9. doi: 10.1097/HEP.0000000000000303. Online ahead of print. ABSTRACT OBJECTIVE: Alcoholic liver disease (ALD) accounts for 70% of liver-related deaths in Europe, with no effective approved therapies. Although mitochondrial dysfunction is one of the earliest manifestations of alcohol-induced injury, restoring mitochondrial activity remains a problematic strategy due to oxidative stress. Here, we identify […]
The amoebicidal effect of Torreya nucifera extract on Acanthamoeba lugdunensis
PLoS One. 2023 Feb 6;18(2):e0281141. doi: 10.1371/journal.pone.0281141. eCollection 2023. ABSTRACT As the number of contact lens users increases, contact lens induced corneal infection is becoming more common. Acanthamoeba keratitis (AK) is a type of those which is caused by Acanthamoeba species, and may cause severe ocular inflammation and visual loss. We evaluated whether Torreya nucifera […]