Category: Ophthalmology AND mitochondrial

Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review

Cureus. 2026 Feb 9;18(2):e103261. doi: 10.7759/cureus.103261. eCollection 2026 Feb. ABSTRACT Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by acute or subacute painless central visual loss. Most cases are associated with three primary mitochondrial DNA mutations; however, rare variants remain incompletely characterized. Early diagnosis is essential for appropriate management and genetic […]

Reversing Mitochondrial Dysfunction in Optineurin E50K Glaucoma: A Metabolic Approach to Neuroprotection

Res Sq [Preprint]. 2026 Feb 19:rs.3.rs-8380062. doi: 10.21203/rs.3.rs-8380062/v1. ABSTRACT Mutations in optineurin (OPTN) are linked to neurodegenerative diseases such as normal tension glaucoma (NTG) and amyotrophic lateral sclerosis. The E50K-OPTN mutation is the most common genetic cause of NTG, where it disrupts mitophagy and leads to the accumulation of dysfunctional mitochondria. To understand how cellular […]

Mitochondrial Short-Chain Enoyl-CoA Hydratase Deficiency

2019 Jun 20 [updated 2026 Mar 12]. 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: Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described. Individuals with ECHS1D can present […]

A coenzyme-based “interface-welding” hydrogel coating for titanium implants promotes diabetic osseointegration by regulating mitochondrial dynamics

Biomaterials. 2026 Mar 5;331:124115. doi: 10.1016/j.biomaterials.2026.124115. Online ahead of print. ABSTRACT The impaired bone healing and osseointegration in diabetes are largely driven by hyperglycemia-induced mitochondrial dysfunction in bone marrow mesenchymal stem cells (BMSCs). To rescue this cellular deficit and enhance bone repair, this study aimed to develop an adhesive, self-healing, mitochondrial coenzyme-based hydrogel coating for […]

Long Noncoding RNAs as Blood-Based Biomarkers of Diabetic Retinopathy

Transl Vis Sci Technol. 2026 Jan 5;15(1):17. doi: 10.1167/tvst.15.1.17. ABSTRACT PURPOSE: Prevalence of diabetic retinopathy closely depends on the duration of diabetes and severity of hyperglycemia. Experimental models have shown that high glucose initiates many metabolic, molecular and epigenetic changes in the retina before vascular histopathology is detectable. Several LncRNAs (RNAs with >200bp and no […]

Ferroptosis mediates retinal damage caused by the combined effects of sleep deprivation and light damage

Free Radic Biol Med. 2026 Mar 7:S0891-5849(26)00193-0. doi: 10.1016/j.freeradbiomed.2026.03.015. Online ahead of print. ABSTRACT BACKGROUND: Sleep deprivation (SD) and excessive light exposure (LD) are increasingly prevalent stressors in modern life, yet their combined impact on retinal integrity remains unclear. This study investigates how SD amplifies LD-induced retinal injury and explores the mechanistic role of ferroptosis-a […]

Kenny is the adaptor protein for ubiquitin-dependent mitophagy in Drosophila melanogaster

Autophagy Rep. 2026 Mar 4;5(1):2638025. doi: 10.1080/27694127.2026.2638025. eCollection 2026. ABSTRACT Mitophagy is the selective degradation program for damaged and unnecessary mitochondria to maintain cellular mitostasis and survival. Specific mutations in the mediators for the canonical ubiquitin (ub)-dependent mitophagy pathway have been identified with unique neurological diseases like Parkinson disease and ALS (amyotrophic lateral sclerosis), metabolic […]

Stem cells ameliorate neurotrauma-induced visual disturbances and retinal degeneration via broad normalization of β-catenin-related signaling

Int J Med Sci. 2026 Jan 23;23(3):758-779. doi: 10.7150/ijms.123975. eCollection 2026. ABSTRACT BACKGROUND: Traumatic brain injury (TBI) is associated with visual dysfunction and retinal degeneration, but the underlying mechanisms and therapeutic options remain limited. Mesenchymal stem cells (MSCs) have shown neuroprotective effects in various central nervous system injuries, including optic neuropathies. OBJECTIVE: To investigate the […]