Modeling aging and retinal degeneration with mitochondrial DNA mutation burden
bioRxiv. 2023 Dec 1:2023.11.30.569464. doi: 10.1101/2023.11.30.569464. Preprint. ABSTRACT Somatic mitochondrial DNA (mtDNA) mutation accumulation has been observed in individuals with retinal degenerative disorders. To study the effects of aging and mtDNA mutation accumulation in the retina, a Polymerase gamma (POLG) deficiency model, the POLGD257A mutator mice (PolgD257A), was used. POLG is an enzyme responsible for […]
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals
Front Neurol. 2023 Dec 1;14:1292320. doi: 10.3389/fneur.2023.1292320. eCollection 2023. ABSTRACT BACKGROUND: Leber Hereditary Optic Neuropathy (LHON) is the most common inherited mitochondrial disease characterized by bilateral, painless, subacute visual loss with a peak age of onset in the second to third decade. Historically, LHON was thought to be exclusively maternally inherited due to mutations in […]
Association of NLRPs with pathogenesis of dry age-related macular degeneration
Int Ophthalmol. 2023 Dec;43(12):4869-4878. doi: 10.1007/s10792-023-02889-7. Epub 2023 Nov 8. ABSTRACT BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population, and Dry AMD is the most common clinical subtype. However, effective measures for the early diagnosis and treatment of dry AMD have not been proposed. In recent years, NOD-like […]
Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function
Stem Cell Reports. 2023 Nov 27:S2213-6711(23)00453-8. doi: 10.1016/j.stemcr.2023.11.004. Online ahead of print. ABSTRACT Autosomal dominant optic atrophy (ADOA), mostly caused by heterozygous OPA1 mutations and characterized by retinal ganglion cell (RGC) loss and optic nerve degeneration, is one of the most common types of inherited optic neuropathies. Previous work using a two-dimensional (2D) differentiation model […]
Ozone exposure affects corneal epithelial fate by promoting mtDNA leakage and cGAS/STING activation
J Hazard Mater. 2023 Dec 12;465:133219. doi: 10.1016/j.jhazmat.2023.133219. Online ahead of print. ABSTRACT Ozone is a common air pollutant associated with various human diseases. The human ocular surface is frequently exposed to ozone in the troposphere, but the mechanisms by which ozone affects the ocular surface health remain unclear. This study aimed to establish a […]
Mitochondrial transplantation attenuates oligomeric amyloid-beta-induced mitochondrial dysfunction and tight junction protein destruction in retinal pigment epithelium
Free Radic Biol Med. 2023 Dec 13:S0891-5849(23)01157-7. doi: 10.1016/j.freeradbiomed.2023.12.012. Online ahead of print. ABSTRACT Transplantation of mitochondria derived from mesenchymal stem cells (MSCs) has emerged as a new treatment method to improve mitochondrial dysfunction and alleviate cell impairment. Interest in using extrinsic mitochondrial transplantation as a therapeutic approach has been increasing because it has been […]
The reciprocal regulation between mitochondrial-associated membranes and Notch signaling in skeletal muscle atrophy
Elife. 2023 Dec 15;12:RP89381. doi: 10.7554/eLife.89381. ABSTRACT Skeletal muscle atrophy and the inhibition of muscle regeneration are known to occur as a natural consequence of aging, yet the underlying mechanisms that lead to these processes in atrophic myofibers remain largely unclear. Our research has revealed that the maintenance of proper mitochondrial-associated endoplasmic reticulum membranes (MAM) […]
Transcriptomic meta-analysis reveals ERRα-mediated oxidative phosphorylation is downregulated in Fuchs’ endothelial corneal dystrophy
PLoS One. 2023 Dec 14;18(12):e0295542. doi: 10.1371/journal.pone.0295542. eCollection 2023. ABSTRACT BACKGROUND: Late-onset Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative disease of cornea and the leading indication for corneal transplantation. Genetically, FECD patients can be categorized as with (RE+) or without (RE-) the CTG trinucleotide repeat expansion in the transcription factor 4 gene. The molecular […]
The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease
Prog Retin Eye Res. 2023 Dec 11:101231. doi: 10.1016/j.preteyeres.2023.101231. Online ahead of print. ABSTRACT The endoplasmic reticulum (ER) is the largest intracellular organelle carrying out a broad range of important cellular functions including protein biosynthesis, folding, and trafficking, lipid and sterol biosynthesis, carbohydrate metabolism, and calcium storage and gated release. In addition, the ER makes […]
Estrogen genotoxicity causes preferential development of Fuchs endothelial corneal dystrophy in females
Redox Biol. 2023 Dec 6;69:102986. doi: 10.1016/j.redox.2023.102986. Online ahead of print. ABSTRACT Fuchs endothelial corneal dystrophy (FECD) is a genetically complex, age-related, female-predominant disorder characterized by loss of post-mitotic corneal endothelial cells (CEnCs). Ultraviolet-A (UVA) light has been shown to recapitulate the morphological and molecular changes seen in FECD to a greater extent in females […]