Comparison of different gene-therapy methods to treat Leber hereditary optic neuropathy in a mouse model
Front Neurosci. 2023 Mar 27;17:1119724. doi: 10.3389/fnins.2023.1119724. eCollection 2023. ABSTRACT INTRODUCTION: Therapies for Leber hereditary optic neuropathy (LHON), in common with all disorders caused by mutated mitochondrial DNA, are inadequate. We have developed two gene therapy strategies for the disease: mitochondrial-targeted and allotopic expressed and compared them in a mouse model of LHON. METHODS: A […]
The Pathological Mechanisms and Novel Therapeutics for Leber’s Hereditary Optic Neuropathy
J Chin Med Assoc. 2023 Apr 10. doi: 10.1097/JCMA.0000000000000927. Online ahead of print. ABSTRACT Optic neuropathies were estimated to affect 115 in 100,000 population in 2018. Leber’s Hereditary Optic Neuropathy (LHON) as one of such optic neuropathy diseases that was first identified in 1871 and can be defined as a hereditary mitochondrial disease. LHON is […]
Wolfberry water extract attenuates blue light-emitting diode damage to ARPE-19 cells and mouse retina by activating the NRF2 signaling pathway
J Food Sci. 2023 Apr 6. doi: 10.1111/1750-3841.16559. Online ahead of print. ABSTRACT The wolfberry is believed to improve eyesight in traditional Chinese medicine. Soaking wolfberry in thermos cups has become a common health-preserving practice. The object of this paper was to research the protective effects of wolfberry water extract (WWE) on oxidative injury induced […]
Nonsyndromic Retinitis Pigmentosa Overview
2000 Aug 4 [updated 2023 Mar 30]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT The goals of this overview on nonsyndromic retinitis pigmentosa are the following. GOAL 1: Describe the clinical characteristics of nonsyndromic retinitis pigmentosa. […]
Ocular Stress Enhances Contralateral Transfer of Lenadogene Nolparvovec Gene Therapy through Astrocyte Networks
Mol Ther. 2023 Apr 3:S1525-0016(23)00195-8. doi: 10.1016/j.ymthe.2023.03.035. Online ahead of print. ABSTRACT Lenadogene nolparvovec (GS010) was developed to treat a point mutation in mitochondrial ND4 that causes Leber hereditary optic neuropathy. Lenadogene nolparvovec delivers human cDNA encoding wild-type ND4 packaged into an rAAV2/2 vector that transduces retinal ganglion cells, to induce allotopic expression of hybrid […]
SRT1720 attenuates UVA-induced corneal endothelial damage via inhibition of oxidative stress and cellular apoptosis
Exp Eye Res. 2023 Apr 2:109464. doi: 10.1016/j.exer.2023.109464. Online ahead of print. ABSTRACT Corneal endothelium is mostly sensitive to oxidative pressure and mitochondrial dysfunction. However, the oxidative-antioxidant mechanism of corneal endothelial cells (CECs) remains partially defined. Silent information regulator 1 (SIRT1) is a well-studied therapeutic target of oxidative damage. This study aimed to determine the […]
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 […]