MicroRNA Signatures in Alzheimer’s Disease and Normal-Tension Glaucoma: A Comparative Expression Analysis of miR-128 and miR-455-3p
Curr Alzheimer Res. 2026 Jan 6. doi: 10.2174/0115672050425207251129073017. Online ahead of print. ABSTRACT INTRODUCTION: The relationship between Alzheimer’s disease (AD) and normal-tension glaucoma (NTG) is an emerging area of interest owing to shared neurodegenerative features. Nevertheless, few studies have ascertained circulating microRNAs (miR) across both conditions. This study aimed to compare the expression of miR-128 […]
Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals
medRxiv [Preprint]. 2025 Oct 7:2025.10.06.25337440. doi: 10.1101/2025.10.06.25337440. ABSTRACT Cigarette smoking influences blood pressure (BP) levels. Studying and accounting for potential gene-smoking interactions can help discover novel loci and provide insights into biological pathways for smoking-associated BP regulation. We conducted a genome-wide association meta-analysis involving 1,188,241 individuals from 66 studies in five ancestry groups, analyzing systolic […]
Mitochondrial Cysteinyl-tRNA Synthetase 2 Protects Against Excitotoxic Retinal Cell Death via Enhanced Supersulfide Production
Free Radic Biol Med. 2026 Jan 6:S0891-5849(26)00015-8. doi: 10.1016/j.freeradbiomed.2026.01.009. Online ahead of print. ABSTRACT Mitochondrial cysteinyl-transfer RNA synthetase 2 (CARS2) is involved not only in the ligation of cysteine to transfer RNA but also in the synthesis of intracellular supersulfides. In this study, we investigated the role of CARS2 in the survival of retinal ganglion […]
Atypical superotemporal iris and retinal coloboma
Am J Ophthalmol Case Rep. 2025 Dec 10;41:102488. doi: 10.1016/j.ajoc.2025.102488. eCollection 2026 Mar. ABSTRACT PURPOSE: To report our findings in a patient with an atypical case of supertemporal iris and retinal coloboma, and to assess its systemic associations and potential genetic causes. OBSERVATIONS: A premature female infant born at 31 weeks gestation presented a left […]
Comparison of thickness changes in retinal nerve fibre layer in Leber’s hereditary optic neuropathy patients with 11778, 14484 and 3460 mutations
Transl Pediatr. 2025 Dec 31;14(12):3420-3428. doi: 10.21037/tp-2025-589. Epub 2025 Dec 25. ABSTRACT BACKGROUND: There was limited research comparing retinal nerve fibre layer (RNFL) involvement among different mitochondrial DNA (mtDNA) mutations associated with varying visual prognoses. This study aimed to observe and compare the thickness changes of RNFL among Leber’s hereditary optic neuropathy (LHON) patients with […]
Müller Glial Kir4.1 Channel Dysfunction in APOE4-KI Model of Alzheimer’s Disease
Glia. 2026 Mar;74(3):e70119. doi: 10.1002/glia.70119. ABSTRACT Alzheimer’s disease (AD), particularly late-onset AD (LOAD), affects millions worldwide, with the apolipoprotein ε4 (APOE4) allele being a significant genetic risk factor. Retinal abnormalities are a hallmark of LOAD, and our recent study demonstrated significant age-related retinal impairments in APOE4-knock-in (KI) mice, highlighting that retinal impairments occur before the […]
BDH1-Dependent Ketone Body Metabolism Maintains Müller Cell Homeostasis and Retinal Function
bioRxiv [Preprint]. 2025 Dec 27:2025.12.27.696636. doi: 10.64898/2025.12.27.696636. ABSTRACT Ketone body metabolism serves as an auxiliary regulator of cellular energetics and redox balance, particularly during prolonged fasting and carbohydrate restriction, yet its role in retinal homeostasis under physiological conditions remains poorly defined. β-hydroxybutyrate dehydrogenase 1 (BDH1) is a mitochondrial enzyme that interconverts acetoacetate and β-hydroxybutyrate, and […]
SPG7-Related Neurologic Disorder
2006 Aug 24 [updated 2026 Jan 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. ABSTRACT CLINICAL CHARACTERISTICS: The phenotypic spectrum of SPG7-related neurologic disorder includes uncomplicated spastic ataxia, complicated spastic ataxia, spinocerebellar ataxia, and isolated optic nerve atrophy. Although […]
Polystyrene and polyvinyl chloride microplastics exposure induces ocular surface inflammation by causing mitochondrial damage and lipid metabolic disruption
J Hazard Mater. 2025 Dec 30;502:140995. doi: 10.1016/j.jhazmat.2025.140995. Online ahead of print. ABSTRACT Microplastics (MPs), particularly polystyrene (PS) and polyvinyl chloride (PVC), are pervasive environmental pollutants implicated in ocular surface damage through poorly understood molecular mechanisms. Here, we elucidate the pathways underlying PS/PVC-induced ocular surface inflammation. In vitro, PS and PVC particles were internalized by […]
Generation of a PLIN2-GFP2-P2A-Puro human induced pluripotent stem cell line (SEUi001-A) via CRISPR/Cas9-mediated gene editing technology
Stem Cell Res. 2025 Dec 23;90:103896. doi: 10.1016/j.scr.2025.103896. Online ahead of print. ABSTRACT Perilipin 2 (PLIN2) dysregulation drives metabolic pathologies including non-alcoholic fatty liver disease (NAFLD). To enable real-time tracking of PLIN2 dynamics, we established a human induced pluripotent stem cell (hiPSC) line with endogenous GFP2 knock-in at the PLIN2 locus via CRISPR/Cas9-mediated non-homologous end […]