Category: Ophthalmology AND mitochondrial

ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity

Am J Ophthalmol Case Rep. 2025 Dec 29;41:102509. doi: 10.1016/j.ajoc.2025.102509. eCollection 2026 Mar. ABSTRACT PURPOSE: To describe a rare case of severe central and peripheral chorioretinal atrophy in a patient with ABCA4-associated retinopathy and prior didanosine exposure. OBSERVATIONS: A 66-year-old man with a 20-year history of Stargardt disease and HIV/AIDS treated with didanosine for almost […]

Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients

Neuroimage Rep. 2026 Jan 6;6(1):100314. doi: 10.1016/j.ynirp.2025.100314. eCollection 2026 Mar. ABSTRACT INTRODUCTION: Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss. When accompanied by additional neurological or systemic features, such as progressive external ophthalmoplegia, myopathy, or deafness, it is classified as DOA-plus (DOA+). Although central nervous system […]

Loss of the CoA-degrading enzyme NUDT19 exacerbates albuminuria and disrupts renal lipid homeostasis in high fat diet-fed mice

Sci Rep. 2026 Jan 20. doi: 10.1038/s41598-026-36136-7. Online ahead of print. ABSTRACT Nudix hydrolase 19 (NUDT19) is a peroxisomal enzyme that hydrolyzes CoA species at the phosphodiester bond and has been linked to peroxisomal dysfunction in the context of diabetic kidney disease. Despite its predominant expression in mouse kidneys, the physiological role of NUDT19 remains […]

Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment

Elife. 2026 Jan 20;14:RP107161. doi: 10.7554/eLife.107161. ABSTRACT Since the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed. We present a multimodal, single-cell resolution analysis of mouse limbal cells (includes TM). In total, we sequenced 9,394 wild-type TM cell transcriptomes. We discovered three […]

Metabolic Alterations Induced by a Seizure-Causing Sodium Channel Mutation and their Partial Normalization by Dietary α-Linolenic Acid in Drosophila

Neurochem Res. 2026 Jan 20;51(1):51. doi: 10.1007/s11064-026-04673-2. ABSTRACT Epilepsy is increasingly recognized as a disorder with prominent metabolic disturbances, but how defined epilepsy-causing mutations reshape metabolism under controlled genetic and environmental conditions remains poorly understood. Here, we used the Drosophila melanogaster gain-of-function voltage-gated sodium channel (VGSC) mutant paraShu, a well-established model of neuronal and behavioral […]

Resveratrol alleviated diabetic retinal neuronal ferroptosis induced by high glucose through inhibiting HIF-1α and HMOX1 pathway

Exp Eye Res. 2026 Jan 17:110872. doi: 10.1016/j.exer.2026.110872. Online ahead of print. ABSTRACT Diabetic retinopathy (DR) is a common complication of diabetes mellitus that can cause blindness and affect the life quality of patients. Diabetic retinal neurodegeneration (DRN) caused by high glucose might be the earlier pathological change preceding vascular injury. Resveratrol has been showed […]

Targeting MFF succinylation: a novel therapeutic strategy for premature ovarian insufficiency by restoring mitochondrial dynamics in granulosa cells

J Ovarian Res. 2026 Jan 19. doi: 10.1186/s13048-026-01964-8. Online ahead of print. ABSTRACT Premature ovarian insufficiency (POI) is a significant clinical disorder characterized by the loss of ovarian function before the age of 40, and its global prevalence is rising. The development of effective therapies is hindered by an incomplete understanding of its pathogenesis. Growing […]