The paradigm change from reactive medical services to 3PM in ischemic stroke: a holistic approach utilising tear fluid multi-omics, mitochondria as a vital biosensor and AI-based multi-professional data interpretation
EPMA J. 2024 Feb 27;15(1):1-23. doi: 10.1007/s13167-024-00356-6. eCollection 2024 Mar. ABSTRACT Worldwide stroke is the second leading cause of death and the third leading cause of death and disability combined. The estimated global economic burden by stroke is over US$891 billion per year. Within three decades (1990-2019), the incidence increased by 70%, deaths by 43%, […]
Correlation between ellipsoid zone thickness and the presence of subretinal drusenoid deposits in age-related macular degeneration
BMJ Open Ophthalmol. 2024 Mar 9;9(1):e001622. doi: 10.1136/bmjophth-2023-001622. ABSTRACT PURPOSE: Subretinal drusenoid deposits (SDDs) in age-related macular degeneration (AMD) are associated with systemic vascular diseases that compromise ocular perfusion. We demonstrate that SDDs are associated with decreased ellipsoid zone (EZ) thickness, further evidence of hypoxic damage. METHODS: Post hoc analysis of a cross-sectional study. 165 […]
Mitochondrial DNA mutations in Korean patients with Leber’s hereditary optic neuropathy
Sci Rep. 2024 Mar 8;14(1):5702. doi: 10.1038/s41598-024-56215-x. ABSTRACT In order to explore the spectrum of mitochondrial DNA (mtDNA) mutations in Korean patients with Leber’s hereditary optic neuropathy (LHON), we investigated the spectrum of mtDNA mutations in 145 Korean probands confirmed with the diagnosis of LHON. Total genomic DNA was isolated from the peripheral blood leukocytes […]
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464. ABSTRACT FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero […]
WNT-inhibitory factor 1-mediated glycolysis protects photoreceptor cells in diabetic retinopathy
J Transl Med. 2024 Mar 6;22(1):245. doi: 10.1186/s12967-024-05046-5. ABSTRACT BACKGROUND: In diabetic retinopathy (DR), hypoxia-inducible factor (HIF-1α) induces oxidative stress by upregulating glycolysis. This process leads to neurodegeneration, particularly photoreceptor cell damage, which further contributes to retinal microvascular deterioration. Further, the regulation of Wnt-inhibitory factor 1 (WIF1), a secreted Wnt signaling antagonist, has not been […]
The anti-apoptotic role of Ginkgolide B via mitochondrial permeability transition pore inhibition in retinal ischemia-reperfusion
Biochem Biophys Res Commun. 2024 Mar 1;705:149722. doi: 10.1016/j.bbrc.2024.149722. Online ahead of print. ABSTRACT This research delves into the effectiveness of Ginkgolide B (GB), a compound from Ginkgo biloba, in combating cell death caused by glaucoma, with a focus on mitochondrial impairment and the mitochondrial permeability transition pore (mPTP). Utilizing models of high intraocular pressure […]
International consensus guidelines for the definition, detection, and interpretation of autophagy-dependent ferroptosis
Autophagy. 2024 Mar 5. doi: 10.1080/15548627.2024.2319901. Online ahead of print. ABSTRACT Macroautophagy/autophagy is a complex degradation process with a dual role in cell death that is influenced by the cell types that are involved and the stressors they are exposed to. Ferroptosis is an iron-dependent oxidative form of cell death characterized by unrestricted lipid peroxidation […]
Association between ambient particulate matter exposure and mitochondrial DNA copy number: A systematic review and meta-analysis
Sci Total Environ. 2024 Mar 3:171423. doi: 10.1016/j.scitotenv.2024.171423. Online ahead of print. ABSTRACT BACKGROUND: Ambient particulate matter (PM) has been recognized as inducing oxidative stress, which could contribute to mitochondrial damage and dysfunction. However, studies investigating the association between ambient PM and mitochondria, particularly mitochondrial DNA copy number (mtDNA-CN), have yielded inconsistent results. METHODS: We […]
NUDC is critical for rod photoreceptor function, maintenance, and survival
FASEB J. 2024 Mar 15;38(5):e23518. doi: 10.1096/fj.202301641RR. ABSTRACT NUDC (nuclear distribution protein C) is a mitotic protein involved in nuclear migration and cytokinesis across species. Considered a cytoplasmic dynein (henceforth dynein) cofactor, NUDC was shown to associate with the dynein motor complex during neuronal migration. NUDC is also expressed in postmitotic vertebrate rod photoreceptors where […]
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8. ABSTRACT DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites of genetic regulation in cis (37,453 methylation quantitative trait loci and 12,505 expression […]