Astrocytes of the optic nerve exhibit a region-specific and temporally distinct response to elevated intraocular pressure
Mol Neurodegener. 2023 Sep 27;18(1):68. doi: 10.1186/s13024-023-00658-9. ABSTRACT BACKGROUND: The optic nerve is an important tissue in glaucoma and the unmyelinated nerve head region remains an important site of many early neurodegenerative changes. In both humans and mice, astrocytes constitute the major glial cell type in the region, and in glaucoma they become reactive, influencing […]
BAX activation in mouse retinal ganglion cells occurs in two temporally and mechanistically distinct steps
Mol Neurodegener. 2023 Sep 26;18(1):67. doi: 10.1186/s13024-023-00659-8. ABSTRACT BACKGROUND: Pro-apoptotic BAX is a central mediator of retinal ganglion cell (RGC) death after optic nerve damage. BAX activation occurs in two stages including translocation of latent BAX to the mitochondrial outer membrane (MOM) and then permeabilization of the MOM to facilitate the release of apoptotic signaling […]
Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies
Front Genet. 2023 Sep 4;14:1251216. doi: 10.3389/fgene.2023.1251216. eCollection 2023. ABSTRACT Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal ganglion cells (RGCs), the projection neurons that relay visual information from the retina to the brain through the optic nerve. The majority of DOA cases can be attributed to mutations […]
Fructus Lycii and Salvia miltiorrhiza Bunge extract attenuate oxidative stress-induced photoreceptor ferroptosis in retinitis pigmentosa
Biomed Pharmacother. 2023 Sep 21;167:115547. doi: 10.1016/j.biopha.2023.115547. Online ahead of print. ABSTRACT AIM OF THE STUDY: To assess the impact of Fructus Lycii and Salvia miltiorrhiza Bunge extract (FSE) on retinitis pigmentosa (RP) and to explore the mechanisms by which FSE can prevent oxidative stress-induced photoreceptor ferroptosis in RP. METHODS: Hydrogen peroxide(H2O2) was used to […]
Retinal ferroptosis as a critical mechanism for the induction of retinochoroiditis during ocular toxoplasmosis
Redox Biol. 2023 Sep 17;67:102890. doi: 10.1016/j.redox.2023.102890. Online ahead of print. ABSTRACT Toxoplasmosis is a major infectious disease, affecting approximately one-third of the world’s population; its main clinical manifestation, ocular toxoplasmosis (OT), is a severe sight-threatening disease. Nevertheless, the diagnosis of OT is based on clinical findings, which needs improvement, even with biochemical tests, such […]
The cGAS-STING pathway-dependent sensing of mitochondrial DNA mediates ocular surface inflammation
Signal Transduct Target Ther. 2023 Sep 21;8(1):371. doi: 10.1038/s41392-023-01624-z. ABSTRACT The innate immune response is the main pathophysiological process of ocular surface diseases exposed to multiple environmental stresses. The epithelium is central to the innate immune response, but whether and how innate immunity is initiated by ocular epithelial cells in response to various environmental stresses […]
Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis
Front Mol Neurosci. 2023 Sep 6;16:1241222. doi: 10.3389/fnmol.2023.1241222. eCollection 2023. ABSTRACT Dominant optic atrophy (DOA) is mainly caused by OPA1 mutations and is characterized by the degeneration of retinal ganglion cells (RGCs), whose axons form the optic nerve. The penetrance of DOA is incomplete and the disease is marked by highly variable expressivity, ranging from […]
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
J Med Genet. 2023 Sep 21:jmg-2023-109340. doi: 10.1136/jmg-2023-109340. Online ahead of print. ABSTRACT BACKGROUND: Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in […]
Coenzyme Q10 trapping in mitochondrial complex I underlies Leber’s hereditary optic neuropathy
Proc Natl Acad Sci U S A. 2023 Sep 26;120(39):e2304884120. doi: 10.1073/pnas.2304884120. Epub 2023 Sep 21. ABSTRACT How does a single amino acid mutation occurring in the blinding disease, Leber’s hereditary optic neuropathy (LHON), impair electron shuttling in mitochondria? We investigated changes induced by the m.3460 G>A mutation in mitochondrial protein ND1 using the tools […]
Mitochondrial disease in New Zealand: a nationwide prevalence study
Intern Med J. 2023 Sep 21. doi: 10.1111/imj.16211. Online ahead of print. ABSTRACT BACKGROUND: The complexities of mitochondrial disease make epidemiological studies challenging, yet this information is important in understanding the healthcare burden and addressing service and educational needs. Existing studies are limited to quaternary centres or focus on a single genotype or phenotype and […]