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 […]
MG132, Attenuates the Retinal Vascular Injury Through the Upregulation of Nrf2 Expression
J Ocul Pharmacol Ther. 2023 Sep 20. doi: 10.1089/jop.2023.0053. Online ahead of print. ABSTRACT Purpose: This study clarifies the beneficial effects of MG132, a proteasomal inhibitor, on retinal vascular injury mediated by diabetes-induced oxidative stress through nuclear factor erythroid 2-related factor 2 (Nrf2). Methods: Diabetic rats and control animals were randomly assigned to receive MG132 […]
Aging, Cellular Senescence, and Glaucoma
Aging Dis. 2023 Jul 16. doi: 10.14336/AD.2023.0630-1. Online ahead of print. ABSTRACT Aging is one of the most serious risk factors for glaucoma, and according to age-standardized prevalence, glaucoma is the second leading cause of legal blindness worldwide. Cellular senescence is a hallmark of aging that is defined by a stable exit from the cell […]
Unleashing the potential of CRISPR multiplexing: Harnessing Cas12 and Cas13 for precise gene modulation in eye diseases
Vision Res. 2023 Sep 16;213:108317. doi: 10.1016/j.visres.2023.108317. Online ahead of print. ABSTRACT Gene therapy is a flourishing field with the potential to revolutionize the treatment of genetic diseases. The emergence of CRISPR-Cas9 has significantly advanced targeted and efficient genome editing. Although CRISPR-Cas9 has demonstrated promising potential applications in various genetic disorders, it faces limitations in […]
Selective effects of estradiol on human corneal endothelial cells
Sci Rep. 2023 Sep 15;13(1):15279. doi: 10.1038/s41598-023-42290-z. ABSTRACT In Fuchs endothelial corneal dystrophy (FECD), mitochondrial and oxidative stresses in corneal endothelial cells (HCEnCs) contribute to cell demise and disease progression. FECD is more common in women than men, but the basis for this observation is poorly understood. To understand the sex disparity in FECD prevalence, […]
Ocular manifestations of the genetic renal tubulopathies
Ophthalmic Genet. 2023 Sep 13:1-15. doi: 10.1080/13816810.2023.2253901. Online ahead of print. ABSTRACT BACKGROUND: The genetic tubulopathies are rare and heterogenous disorders that are often difficult to identify. This study examined the tubulopathy-causing genes for ocular associations that suggested their genetic basis and, in some cases, the affected gene. METHODS: Sixty-seven genes from the Genomics England […]