Optic Atrophy Associated With a Mitochondrial G8363A Mutation in a Family

Clin Genet. 2026 Mar 18. doi: 10.1111/cge.70152. Online ahead of print. ABSTRACT We report a rare family of optic atrophy diseases associated with mitochondrial DNA G8363A transfer ribonucleic acid (RNA) cleavage mutations. This family does not exhibit the characteristic symptoms of myoclonic epilepsy or cutaneous lipomas, but instead presents with bilateral optic atrophy. The clinical […]

Research Prospects for the Mitochondria in Glaucoma: A Bibliometric Analysis

Curr Med Chem. 2026 Mar 11. doi: 10.2174/0109298673417791251204121930. Online ahead of print. ABSTRACT BACKGROUND: Growing evidence implicates mitochondrial dysfunction as a pivotal contributor to glaucoma pathogenesis through oxidative stress, autophagy, and apoptotic pathways. However, systematic analyses of research collaboration patterns, key themes, and emerging trends in this field remain limited. METHODS: We retrieved relevant publications […]

1β,6α-Dihydroxyeudesm-4(15)-ene Protects Against MPP+-Induced Cytotoxicity in SH-SY5Y Cells: An In Vitro Model of Parkinson’s Disease

J Med Food. 2026 Feb;29(2):71-81. doi: 10.1177/1096620X261428649. Epub 2026 Mar 16. ABSTRACT Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the progressive degeneration of the nigrostriatal dopaminergic pathway, which regulates body movements. 1-Methyl-4-phenylpyridinium (MPP+) is a widely used neurotoxin for studying the neurodegenerative process in PD models. 1β,6α-Dihydroxyeudesm-4(15)-ene (DE) is a sesquiterpene isolated from […]

TAZ (Wwtr1) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs’ endothelial corneal dystrophy

bioRxiv [Preprint]. 2026 Feb 19:2026.02.17.706456. doi: 10.64898/2026.02.17.706456. ABSTRACT Fuchs’ endothelial corneal dystrophy (FECD) impacts over 300 million individuals worldwide with corneal transplantation as the primary treatment. There is a dire need to establish non-surgical alternatives which are dependent on mouse models. Transcriptional co-activator with PDZ-binding motif (TAZ, encoded by Wwtr1) is a mechanotransducer implicated in […]

Lactate-Lactylation Axis as an Emerging Metabolic-Epigenetic Pathway in Diabetic Microvascular Complications

Ageing Res Rev. 2026 Mar 12:103100. doi: 10.1016/j.arr.2026.103100. Online ahead of print. ABSTRACT Lactate, once viewed merely as a glycolytic byproduct, is now recognized as a key signaling molecule and epigenetic regulator through the recently identified post-translational modification known as lactylation. In diabetic microvascular complications, including diabetic retinopathy (DR), diabetic kidney disease (DKD), and diabetic […]

Characterization of the Effects of a Humanin Fragment Peptide (HNF14) in Age-Related Macular Degeneration

J Clin Med. 2026 Feb 24;15(5):1686. doi: 10.3390/jcm15051686. ABSTRACT Background: Age-related macular degeneration (AMD) is a leading cause of vision loss and is strongly associated with mitochondrial dysfunction in retinal pigment epithelial cells. Mitochondrial-derived peptides, including Humanin and its analogs, have demonstrated cytoprotective effects in AMD-related cellular models. However, the effects of shorter Humanin-derived fragments […]

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function

PLoS Genet. 2026 Mar 13;22(3):e1012076. doi: 10.1371/journal.pgen.1012076. eCollection 2026 Mar. ABSTRACT COG5, a subunit of the conserved oligomeric Golgi (COG) complex, plays a critical role in retrograde trafficking within the Golgi apparatus. Dysfunction of COG5 is associated with various human disorders, yet the underlying pathogenic mechanisms remain poorly understood. To investigate the mechanisms, we conducted […]

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 […]