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 […]
Peroxisome proliferator-activated receptor-α (PPARα) regulates wound healing and mitochondrial metabolism in the cornea
Proc Natl Acad Sci U S A. 2023 Mar 28;120(13):e2217576120. doi: 10.1073/pnas.2217576120. Epub 2023 Mar 21. ABSTRACT Diabetes can result in impaired corneal wound healing. Mitochondrial dysfunction plays an important role in diabetic complications. However, the regulation of mitochondria function in the diabetic cornea and its impacts on wound healing remain elusive. The present study […]
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 […]
A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy
Case Rep Ophthalmol. 2023 Mar 16;14(1):99-103. doi: 10.1159/000529423. eCollection 2023 Jan-Dec. ABSTRACT Mutations to the ND5 gene are uncommonly associated with Leber’s hereditary optic neuropathy (LHON). Herein, we describe a 57-year-old man with the m. 13528A>G, p. (Thr398Ala) mutation at the ND5 gene who presented with progressive bilateral vision loss over the course of 3 […]
Single-cell profiling reveals Müller glia coordinate retinal intercellular communication during light/dark adaptation via thyroid hormone signaling
Protein Cell. 2023 Feb 21:pwad007. doi: 10.1093/procel/pwad007. Online ahead of print. ABSTRACT Light adaptation enables the vertebrate visual system to operate over a wide range of ambient illumination. Regulation of phototransduction in photoreceptors is considered a major mechanism underlying light adaptation. However, various types of neurons and glial cells exist in the retina, and whether […]
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion
Proc Natl Acad Sci U S A. 2023 Mar 21;120(12):e2207471120. doi: 10.1073/pnas.2207471120. Epub 2023 Mar 16. ABSTRACT Inner mitochondrial membrane fusion and cristae shape depend on optic atrophy protein 1, OPA1. Mutations in OPA1 lead to autosomal dominant optic atrophy (ADOA), an important cause of inherited blindness. The Guanosin Triphosphatase (GTPase) and GTPase effector domains […]
The use of Nicotinamide and Nicotinamide riboside as an adjunct therapy in the treatment of glaucoma
Eur J Ophthalmol. 2023 Mar 14:11206721231161101. doi: 10.1177/11206721231161101. Online ahead of print. ABSTRACT Glaucoma is an optic neuropathy characterized by death of retinal ganglion cells (RGCs), which leads to progressive visual field loss and may result in blindness. Currently, the only available treatment to avoid or delay progression in glaucoma patients is to decrease intraocular […]
Optic Nerve Injury Enhanced Mitochondrial Fission and Increased Mitochondrial Density without Altering the Uniform Mitochondrial Distribution in the Unmyelinated Axons of Retinal Ganglion Cells in a Mouse Model
Int J Mol Sci. 2023 Feb 22;24(5):4356. doi: 10.3390/ijms24054356. ABSTRACT Glaucomatous optic neuropathy (GON), a major cause of blindness, is characterized by the loss of retinal ganglion cells (RGCs) and the degeneration of their axons. Mitochondria are deeply involved in maintaining the health of RGCs and their axons. Therefore, lots of attempts have been made […]
Lacrimal Gland Epithelial Cells Shape Immune Responses through the Modulation of Inflammasomes and Lipid Metabolism
Int J Mol Sci. 2023 Feb 21;24(5):4309. doi: 10.3390/ijms24054309. ABSTRACT Lacrimal gland inflammation triggers dry eye disease through impaired tear secretion by the epithelium. As aberrant inflammasome activation occurs in autoimmune disorders including Sjögren’s syndrome, we analyzed the inflammasome pathway during acute and chronic inflammation and investigated its potential regulators. Bacterial infection was mimicked by […]