Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
Cell Rep Med. 2024 Jan 17:101383. doi: 10.1016/j.xcrm.2023.101383. Online ahead of print. ABSTRACT Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% of patients, but we can neither predict nor understand the non-responders. Idebenone is reduced by the cytosolic NAD(P)H oxidoreductase I (NQO1) and […]
Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON)
Hum Genome Var. 2024 Jan 25;11(1):6. doi: 10.1038/s41439-023-00258-5. ABSTRACT Leber’s hereditary optic neuropathy (LHON) is a mitochondrial hereditary disease in which visual loss affects complex 1 activity of the electron transport chain of mitochondria. It first manifests as painless dulling or blurry in one or even both eyes, and as it develops, sharpness and color […]
Suppressor of cytokine signaling 3-derived peptide as a therapeutic for inflammatory and oxidative stress-induced damage to the retina
Mol Vis. 2023 Dec 20;29:338-356. eCollection 2023. ABSTRACT PURPOSE: Inflammation and oxidative stress contribute to age-related macular degeneration (AMD) and other retinal diseases. We tested a cell-penetrating peptide from the kinase inhibitory region of an intracellular checkpoint inhibitor suppressor of cytokine signaling 3 (R9-SOCS3-KIR) peptide for its ability to blunt the inflammatory or oxidative pathways […]
Significant and Various Effects of ML329-Induced MITF Suppression in the Melanoma Cell Line
Cancers (Basel). 2024 Jan 7;16(2):263. doi: 10.3390/cancers16020263. ABSTRACT To study the inhibitory effects on microphthalmia-associated transcription factor (MITF)-related biological aspects in malignant melanomas (MMs) in the presence or absence of the low-molecular MITF specific inhibitor ML329, cell viability, cellular metabolic functions, and three-dimensional (3D) spheroid formation efficacy were compared among MM cell lines including SK-mel-24, […]
Comparison of Transcriptomic Analysis of the Conjunctiva in Glaucoma-Treated Eyes with Dry Eyes and Healthy Controls
Biomolecules. 2023 Dec 25;14(1):30. doi: 10.3390/biom14010030. ABSTRACT Ocular surface disease (OSD) associated with topical glaucoma drugs is a common issue impacting treatment adherence. We aimed to identify conjunctival transcriptomic changes in glaucoma and dry eye patients, comparing them to healthy controls. Bulbar conjunctival specimens were collected via impression cytology from 33 patients treated for glaucoma, […]
Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells
PLoS One. 2024 Jan 22;19(1):e0296928. doi: 10.1371/journal.pone.0296928. eCollection 2024. ABSTRACT Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to corneal edema and visual […]
Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells
Bioengineering (Basel). 2024 Jan 3;11(1):52. doi: 10.3390/bioengineering11010052. ABSTRACT Hereditary optic neuropathies (HONs) such as dominant optic atrophy (DOA) and Leber Hereditary Optic Neuropathy (LHON) are mitochondrial diseases characterized by a degenerative loss of retinal ganglion cells (RGCs) and are a cause of blindness worldwide. To date, there are only limited disease-modifying treatments for these disorders. […]
Chronic Sleep Deprivation Impairs Visual Functions via Oxidative Damage in Mice
Am J Pathol. 2024 Feb;194(2):307-320. doi: 10.1016/j.ajpath.2023.11.004. ABSTRACT Sleep deprivation (SD) is a global public health burden, and has a detrimental role in the nervous system. Retina is an important part of the central nervous system; however, whether SD affects retinal structures and functions remains largely unknown. Herein, chronic SD mouse model indicated that loss […]
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
Brain. 2024 Jan 18:awae018. doi: 10.1093/brain/awae018. Online ahead of print. ABSTRACT Aberrant cholesterol metabolism causes neurological disease and neurodegeneration, and mitochondria have been linked to perturbed cholesterol homeostasis via the study of pathological mutations in the ATAD3 gene cluster. However, whether the cholesterol changes were compensatory or contributory to the disorder was unclear, nor were […]
Stress granules affect the dual PI3K/mTOR inhibitor response by regulating the mitochondrial unfolded protein response
Cancer Cell Int. 2024 Jan 18;24(1):38. doi: 10.1186/s12935-024-03210-x. ABSTRACT Drug resistance remains a challenge in ovarian cancer. In addition to aberrant activation of relevant signaling pathways, the adaptive stress response is emerging as a new spotlight of drug resistance in cancer cells. Stress granules (SGs) are one of the most important features of the adaptive […]