Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
J Med Genet. 2023 Apr 3:jmg-2022-108888. doi: 10.1136/jmg-2022-108888. Online ahead of print. ABSTRACT BACKGROUND: Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (VWA8) encodes a mitochondrial matrix-targeted protein; its molecular function and pathogenic mechanism […]
Pathologically high intraocular pressure induces mitochondrial dysfunction through Drp1 and leads to retinal ganglion cell PANoptosis in glaucoma
Redox Biol. 2023 Mar 21;62:102687. doi: 10.1016/j.redox.2023.102687. Online ahead of print. ABSTRACT Glaucoma is a common neurodegenerative disease characterized by progressive retinal ganglion cell (RGC) loss and visual field defects. Pathologically high intraocular pressure (ph-IOP) is an important risk factor for glaucoma, and it triggers molecularly distinct cascades that control RGC death and axonal degeneration. […]
Blockade of ß-Adrenergic Receptors by Nebivolol Enables Tumor Control Potential for Uveal Melanoma in 3D Tumor Spheroids and 2D Cultures
Int J Mol Sci. 2023 Mar 20;24(6):5894. doi: 10.3390/ijms24065894. ABSTRACT Uveal melanoma (UM) is the most common primary cancer of the eye in adults. A new systemic therapy is needed to reduce the high metastasis and mortality rate. As β-blockers are known to have anti-tumor effects on various cancer entities, this study focuses on investigating […]
Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
Genes (Basel). 2023 Mar 15;14(3):720. doi: 10.3390/genes14030720. ABSTRACT Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected child, diagnosed with Ohtahara syndrome […]
Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts
Genes (Basel). 2023 Feb 24;14(3):566. doi: 10.3390/genes14030566. ABSTRACT The progressive degeneration of granular corneal dystrophy type 2 (GCD2) corneal fibroblasts is associated with altered mitochondrial function, but the underlying mechanisms are incompletely understood. We investigated whether an imbalance of mitochondrial dynamics contributes to mitochondrial dysfunction of GCD2 corneal fibroblasts. Transmission electron microscopy revealed several small, […]
Stability Determination of Intact Humanin-G with Characterizations of Oxidation and Dimerization Patterns
Biomolecules. 2023 Mar 11;13(3):515. doi: 10.3390/biom13030515. ABSTRACT Humanin is the first identified mitochondrial-derived peptide. Humanin-G (HNG) is a variant of Humanin that has significantly higher cytoprotective properties. Here, we describe the stability features of HNG in different conditions and characterize HNG degradation, oxidation, and dimerization patterns over short-term and long-term periods. HNG solutions were prepared […]
The Prognostic Role of ACO2 in Renal Cell Carcinoma
Anticancer Res. 2023 Apr;43(4):1503-1511. doi: 10.21873/anticanres.16299. ABSTRACT BACKGROUND/AIM: Renal cell carcinoma (RCC) continues to pose a challenge due to our limited understanding of its underlying pathophysiology. Aconitase 2 (ACO2) is a mitochondrial Fe-S cluster enzyme that catalyzes the stereospecific isomerization of citrate to isocitrate in the second step of the Krebs cycle. We investigated the […]
Sirtuin 3 mutation- induced mitochondrial dysfunction and optic neuropathy: a case report
BMC Ophthalmol. 2023 Mar 24;23(1):118. doi: 10.1186/s12886-023-02872-x. ABSTRACT BACKGROUND: Mitochondrial optic neuropathy is characterized by painless, progressive, symmetrical central vision loss, and dyschromatopsia owing to mitochondrial dysfunction. This report documents a rare case of mitochondrial optic neuropathy due to the SIRT3 gene mutation. CASE PRESENTATION: This report describes a case of a 17-year-old boy who […]
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene
Ophthalmic Genet. 2023 Mar 22:1-5. doi: 10.1080/13816810.2023.2189945. Online ahead of print. ABSTRACT PURPOSE: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation. METHODS: A case report. RESULTS: An […]
FGF21 via mitochondrial lipid oxidation promotes physiological vascularization in a mouse model of Phase I ROP
Angiogenesis. 2023 Mar 21. doi: 10.1007/s10456-023-09872-x. Online ahead of print. ABSTRACT Hyperglycemia in early postnatal life of preterm infants with incompletely vascularized retinas is associated with increased risk of potentially blinding neovascular retinopathy of prematurity (ROP). Neovascular ROP (Phase II ROP) is a compensatory but ultimately pathological response to the suppression of physiological postnatal retinal […]