Mitochondrial ferritin upregulation reduced oxidative stress and blood-brain-barrier disruption by maintaining cellular iron homeostasis in a neonatal rat model of germinal matrix hemorrhage
Exp Neurol. 2024 Jan 26:114703. doi: 10.1016/j.expneurol.2024.114703. Online ahead of print. ABSTRACT Germinal matrix hemorrhage (GMH) is a devasting neurological disease in premature newborns. After GMH, brain iron overload associated with hemoglobin degradation contributed to oxidative stress, causing disruption of the already vulnerable blood-brain barrier (BBB). Mitochondrial ferritin (FTMT), a novel mitochondrial outer membrane protein, […]
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients
Am J Ophthalmol. 2024 Jan 24:S0002-9394(24)00014-X. doi: 10.1016/j.ajo.2024.01.011. Online ahead of print. ABSTRACT PURPOSE: Heterozygous mutations in AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated to isolated forms of Dominant Optic Atrophy (DOA). We aimed at describing their neuro-ophthalmological phenotype as compared […]
AIBP: A New Safeguard against Glaucomatous Neuroinflammation
Cells. 2024 Jan 21;13(2):198. doi: 10.3390/cells13020198. ABSTRACT Glaucoma is a group of ocular diseases that cause irreversible blindness. It is characterized by multifactorial degeneration of the optic nerve axons and retinal ganglion cells (RGCs), resulting in the loss of vision. Major components of glaucoma pathogenesis include glia-driven neuroinflammation and impairment of mitochondrial dynamics and bioenergetics, […]
Acetylated tau exacerbates apoptosis by disturbing mitochondrial dynamics in HEK293 cells
J Neurochem. 2024 Jan 26. doi: 10.1111/jnc.16053. Online ahead of print. ABSTRACT An increase in tau acetylation at K274 and K281 and abnormal mitochondrial dynamics have been observed in the brains of Alzheimer’s disease (AD) patients. Here, we constructed three types of tau plasmids, TauKQ (acetylated tau mutant, by mutating its K274/K281 into glutamine to […]
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 […]